MCID: ACH033
MIFTS: 44

Achondrogenesis, Type Ia

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

Aliases & Classifications for Achondrogenesis, Type Ia

MalaCards integrated aliases for Achondrogenesis, Type Ia:

Name: Achondrogenesis, Type Ia 57 29 13 6 40
Achondrogenesis Type Ia 12 75 37 15
Achondrogenesis Type 1a 76 53 59 73
Achondrogenesis Houston-Harris Type 12 53 75
Acg1a 57 53 75
Achondrogenesis, Houston-Harris Type 57 59
Houston-Harris Achondrogenesis 53
Achondrogenesis 1a 75
Acg-Ia 75

Characteristics:

Orphanet epidemiological data:

59
achondrogenesis type 1a
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
infants are stillborn or die shortly after birth


HPO:

32
achondrogenesis, type ia:
Mortality/Aging stillbirth
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Achondrogenesis, Type Ia

NIH Rare Diseases : 53 Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone. Infants with achondrogenesis usually have a small body, short arms and legs, and other skeletal abnormalities that cause life-threatening complications.  There are at least three forms of achondrogenesis, type 1A, type 1B and type 2, which are distinguished by signs and symptoms, pattern of inheritance, and the results of imaging studies such as x-rays (radiology), tissue analysis (histology), and genetic testing.  Type 1A and 1B achondrogenesis are both inherited in an autosomal recessive pattern.  Type 1B may be caused by mutations in the SLC26A2 gene.  Type 2 achondrogenesis is inherited in an autosomal dominant pattern and is caused by new (de novo) mutations in the COL2A1 gene.

MalaCards based summary : Achondrogenesis, Type Ia, also known as achondrogenesis type ia, is related to achondrogenesis and encephalocele, 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 Spinal Cord Injury and Endochondral Ossification. Affiliated tissues include bone, testes and lung, and related phenotypes are macrocephaly and short neck

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)

UniProtKB/Swiss-Prot : 75 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.

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

Wikipedia : 76 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
short neck

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

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

Abdomen External Features:
protuberant abdomen

Growth Height:
dwarfism, marked micromelic

Skeletal Skull:
poorly ossified skull

Skeletal Pelvis:
pubic bones ossified
arched ilium
hypoplastic ischium

Skeletal Feet:
unossified feet

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

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Chest External Features:
barrel-shaped chest

Prenatal Manifestations Delivery:
stillborn

Growth Other:
short trunk

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

Skeletal Hands:
unossified hands

Prenatal Manifestations:
hydrops


Clinical features from OMIM:

200600

Human phenotypes related to Achondrogenesis, Type Ia:

59 32 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
2 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
3 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
4 umbilical hernia 59 32 frequent (33%) Frequent (79-30%) HP:0001537
5 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
6 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
7 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
8 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
9 narrow chest 59 32 hallmark (90%) Very frequent (99-80%) HP:0000774
10 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
11 short palm 59 32 frequent (33%) Frequent (79-30%) HP:0004279
12 short foot 59 32 frequent (33%) Frequent (79-30%) HP:0001773
13 short thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0010306
14 hydrops fetalis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001789
15 flat face 59 32 hallmark (90%) Very frequent (99-80%) HP:0012368
16 thickened nuchal skin fold 59 32 hallmark (90%) Very frequent (99-80%) HP:0000474
17 cystic hygroma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000476
18 polyhydramnios 59 32 frequent (33%) Frequent (79-30%) HP:0001561
19 recurrent fractures 59 32 frequent (33%) Frequent (79-30%) HP:0002757
20 severe short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003510
21 abdominal distention 59 32 hallmark (90%) Very frequent (99-80%) HP:0003270
22 aplasia/hypoplasia of the lungs 59 32 hallmark (90%) Very frequent (99-80%) HP:0006703
23 abnormal enchondral ossification 59 32 hallmark (90%) Very frequent (99-80%) HP:0003336
24 lethal skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0005716
25 femoral hernia 59 32 frequent (33%) Frequent (79-30%) HP:0100541
26 multiple rib fractures 59 32 frequent (33%) Frequent (79-30%) HP:0006640
27 depressed nasal bridge 32 HP:0005280
28 malformation of the heart and great vessels 59 Occasional (29-5%)
29 disproportionate short-trunk short stature 32 HP:0003521
30 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
31 hypoplasia of the radius 32 HP:0002984
32 hypoplastic scapulae 32 HP:0000882
33 short clavicles 32 HP:0000894
34 decreased skull ossification 32 HP:0004331
35 hypoplastic ischia 32 HP:0003175
36 barrel-shaped chest 32 HP:0001552
37 short ribs 32 HP:0000773
38 protuberant abdomen 32 HP:0001538
39 abnormality of the femoral metaphysis 32 HP:0006489
40 broad clavicles 32 HP:0000916
41 beaded ribs 32 HP:0000923
42 unossified vertebral bodies 32 HP:0004606
43 abnormal hand bone ossification 32 HP:0010660
44 abnormal foot bone ossification 32 HP:0010675

UMLS symptoms related to Achondrogenesis, Type Ia:


edema

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.28 SLC26A2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.28 SLC26A2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.28 SLC26A2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.28 SLC26A2 TRIP11
5 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.28 SLC26A2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.28 TRIP11
7 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.28 TRIP11
8 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.28 TRIP11

MGI Mouse Phenotypes related to Achondrogenesis, Type Ia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.13 COL2A1 SLC26A2 TRIP11
2 limbs/digits/tail MP:0005371 8.8 COL2A1 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

MalaCards organs/tissues related to Achondrogenesis, Type Ia:

41
Bone, Testes, Lung, Skin, Heart

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

19
Vertebral Column Or

Publications for Achondrogenesis, Type Ia

Articles related to Achondrogenesis, Type Ia:

# Title Authors Year
1
Achondrogenesis Type IA (Houston-Harris): a still-unresolved molecular phenotype. ( 17638425 )
2007
2
Achondrogenesis type IA with an occipital encephalocele. ( 9101279 )
1997
3
A case of achondrogenesis type IA with an occipital encephalocele. ( 8897040 )
1996

Variations for Achondrogenesis, Type Ia

ClinVar genetic disease variations for Achondrogenesis, Type Ia:

6
(show all 25)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRIP11 NM_004239.4(TRIP11): c.790C> T (p.Arg264Ter) single nucleotide variant Pathogenic rs267607138 GRCh37 Chromosome 14, 92482073: 92482073
2 TRIP11 NM_004239.4(TRIP11): c.790C> T (p.Arg264Ter) single nucleotide variant Pathogenic rs267607138 GRCh38 Chromosome 14, 92015729: 92015729
3 TRIP11 NP_004230.2(TRIP11): p.Trp1224Ter protein only Pathogenic
4 TRIP11 NM_004239.4(TRIP11): c.202-2A> G single nucleotide variant Pathogenic rs863223281 GRCh37 Chromosome 14, 92491766: 92491766
5 TRIP11 NM_004239.4(TRIP11): c.202-2A> G single nucleotide variant Pathogenic rs863223281 GRCh38 Chromosome 14, 92025422: 92025422
6 TRIP11 NM_004239.4(TRIP11): c.2498_2501delAATA (p.Lys833Ilefs) deletion Likely pathogenic rs1085307101 GRCh37 Chromosome 14, 92471819: 92471822
7 TRIP11 NM_004239.4(TRIP11): c.2498_2501delAATA (p.Lys833Ilefs) deletion Likely pathogenic rs1085307101 GRCh38 Chromosome 14, 92005475: 92005478
8 TRIP11 NM_004239.4(TRIP11): c.5781G> A (p.Ser1927=) single nucleotide variant Benign/Likely benign rs3742719 GRCh38 Chromosome 14, 91969832: 91969832
9 TRIP11 NM_004239.4(TRIP11): c.5781G> A (p.Ser1927=) single nucleotide variant Benign/Likely benign rs3742719 GRCh37 Chromosome 14, 92436176: 92436176
10 TRIP11 NM_004239.4(TRIP11): c.4812T> C (p.Asp1604=) single nucleotide variant Benign/Likely benign rs17127837 GRCh37 Chromosome 14, 92465664: 92465664
11 TRIP11 NM_004239.4(TRIP11): c.4812T> C (p.Asp1604=) single nucleotide variant Benign/Likely benign rs17127837 GRCh38 Chromosome 14, 91999320: 91999320
12 TRIP11 NM_004239.4(TRIP11): c.405T> C (p.Ala135=) single nucleotide variant Benign/Likely benign rs77981249 GRCh38 Chromosome 14, 92021739: 92021739
13 TRIP11 NM_004239.4(TRIP11): c.405T> C (p.Ala135=) single nucleotide variant Benign/Likely benign rs77981249 GRCh37 Chromosome 14, 92488083: 92488083
14 TRIP11 NM_004239.4(TRIP11): c.5470G> A (p.Asp1824Asn) single nucleotide variant Uncertain significance rs550137986 GRCh38 Chromosome 14, 91974731: 91974731
15 TRIP11 NM_004239.4(TRIP11): c.5470G> A (p.Asp1824Asn) single nucleotide variant Uncertain significance rs550137986 GRCh37 Chromosome 14, 92441075: 92441075
16 TRIP11 NM_004239.4(TRIP11): c.5719+2T> C single nucleotide variant Likely pathogenic rs199736345 GRCh37 Chromosome 14, 92439059: 92439059
17 TRIP11 NM_004239.4(TRIP11): c.5719+2T> C single nucleotide variant Likely pathogenic rs199736345 GRCh38 Chromosome 14, 91972715: 91972715
18 TRIP11 NM_004239.4(TRIP11): c.754C> A (p.Arg252=) single nucleotide variant Benign/Likely benign rs186197454 GRCh37 Chromosome 14, 92482109: 92482109
19 TRIP11 NM_004239.4(TRIP11): c.754C> A (p.Arg252=) single nucleotide variant Benign/Likely benign rs186197454 GRCh38 Chromosome 14, 92015765: 92015765
20 TRIP11 NM_004239.4(TRIP11): c.5169G> A (p.Leu1723=) single nucleotide variant Benign rs2038276 GRCh37 Chromosome 14, 92454719: 92454719
21 TRIP11 NM_004239.4(TRIP11): c.5169G> A (p.Leu1723=) single nucleotide variant Benign rs2038276 GRCh38 Chromosome 14, 91988375: 91988375
22 TRIP11 NM_004239.4(TRIP11): c.1547A> G (p.Asp516Gly) single nucleotide variant Uncertain significance rs1018806781 GRCh38 Chromosome 14, 92006429: 92006429
23 TRIP11 NM_004239.4(TRIP11): c.1547A> G (p.Asp516Gly) single nucleotide variant Uncertain significance rs1018806781 GRCh37 Chromosome 14, 92472773: 92472773
24 TRIP11 NM_004239.4(TRIP11): c.1159G> A (p.Val387Met) single nucleotide variant Uncertain significance rs376669587 GRCh38 Chromosome 14, 92014242: 92014242
25 TRIP11 NM_004239.4(TRIP11): c.1159G> A (p.Val387Met) single nucleotide variant Uncertain significance rs376669587 GRCh37 Chromosome 14, 92480586: 92480586

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 11.23 ACAN COL2A1
2 10.77 ACAN COL2A1
3 10.18 ACAN COL2A1

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 extracellular matrix GO:0031012 8.62 ACAN COL2A1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.32 ACAN COL2A1
2 skeletal system development GO:0001501 9.26 ACAN COL2A1
3 central nervous system development GO:0007417 9.16 ACAN COL2A1
4 ossification GO:0001503 8.96 COL2A1 SLC26A2
5 bone development GO:0060348 8.62 COL2A1 TRIP11

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.62 ACAN COL2A1

Sources for Achondrogenesis, Type Ia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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