AO2
MCID: ATL015
MIFTS: 35

Atelosteogenesis, Type Ii (AO2)

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

Aliases & Classifications for Atelosteogenesis, Type Ii

MalaCards integrated aliases for Atelosteogenesis, Type Ii:

Name: Atelosteogenesis, Type Ii 58 77 56 41
De La Chapelle Dysplasia 58 25 54 26 6 74
Atelosteogenesis Type 2 25 54 26 30 6 74
Ao2 58 54 26 76
Neonatal Osseous Dysplasia 1 54 26 76
Atelosteogenesis Type Ii 76 38
Mcalister Dysplasia 25 26
Atelosteogenesis Ii 54 13
Aoii 58 54
Atelosteogenesis De La Chapelle Type 26
Neonatal Osseous Dysplasia Type I 76
Neonatal Osseous Dysplasia I 58
Atelosteogenesis, Type 2 26
Atelosteogenesis 2 76
Ao-Ii 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
allelic to diastrophic dysplasia , achondrogenesis, type 1b , and multiple epiphyseal dysplasia, type 4


HPO:

33
atelosteogenesis, type ii:
Mortality/Aging stillbirth
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Atelosteogenesis, Type Ii

NIH Rare Diseases : 54 Atelosteogenesis type 2 is a genetic disorder that affects cartilage and bone development. Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. The signs and symptoms of atelosteogenesis type 2 include an opening in the roof of the mouth (a cleft palate), characteristic facial features, an inward- and upward-turning foot (clubfoot), and unusually positioned thumbs (hitchhiker thumbs). Atelosteogenesis type 2 causes serious health problems and infants with this disorder are usually stillborn or die soon after birth from respiratory failure. Some infants, however, have lived for a short time with intensive medical support.

MalaCards based summary : Atelosteogenesis, Type Ii, also known as de la chapelle dysplasia, is related to atelosteogenesis and diastrophic dysplasia. An important gene associated with Atelosteogenesis, Type Ii is SLC26A2 (Solute Carrier Family 26 Member 2). The drugs Dexmedetomidine and Central Nervous System Depressants have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are malar flattening and short neck

Genetics Home Reference : 26 Atelosteogenesis type 2 is a severe disorder of cartilage and bone development. Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. This disorder is also characterized by an opening in the roof of the mouth (a cleft palate), distinctive facial features, an inward- and upward-turning foot (clubfoot), and unusually positioned thumbs (hitchhiker thumbs).

UniProtKB/Swiss-Prot : 76 Atelosteogenesis 2: A perinatal dysplasia characterized by shortening of the limbs, a dysmorphic syndrome and radiographic skeletal features. Patients are stillborn or die soon after birth.

Wikipedia : 77 Atelosteogenesis, type II is a severe disorder of cartilage and bone development. It is rare, and... more...

Description from OMIM: 256050
GeneReviews: NBK1317

Related Diseases for Atelosteogenesis, Type Ii

Diseases in the Atelosteogenesis family:

Atelosteogenesis, Type I Atelosteogenesis, Type Iii
Atelosteogenesis, Type Ii

Diseases related to Atelosteogenesis, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 atelosteogenesis 10.5
2 diastrophic dysplasia 10.4
3 intraocular pressure quantitative trait locus 10.1
4 nodular lymphocyte predominant hodgkin lymphoma 10.1

Symptoms & Phenotypes for Atelosteogenesis, Type Ii

Human phenotypes related to Atelosteogenesis, Type Ii:

33 (show all 23)
# Description HPO Frequency HPO Source Accession
1 malar flattening 33 HP:0000272
2 short neck 33 HP:0000470
3 respiratory insufficiency 33 HP:0002093
4 scoliosis 33 HP:0002650
5 depressed nasal bridge 33 HP:0005280
6 abnormality of metabolism/homeostasis 33 HP:0001939
7 cleft palate 33 HP:0000175
8 micrognathia 33 HP:0000347
9 platyspondyly 33 HP:0000926
10 micromelia 33 HP:0002983
11 talipes equinovarus 33 HP:0001762
12 sandal gap 33 HP:0001852
13 midface retrusion 33 HP:0011800
14 flat acetabular roof 33 HP:0003180
15 pulmonary hypoplasia 33 HP:0002089
16 thoracic hypoplasia 33 HP:0005257
17 lumbar hyperlordosis 33 HP:0002938
18 short middle phalanx of finger 33 HP:0005819
19 coronal cleft vertebrae 33 HP:0003417
20 short sacroiliac notch 33 HP:0003185
21 cervical kyphosis 33 HP:0002947
22 horizontal sacrum 33 HP:0003440
23 dumbbell-shaped femur 33 HP:0006375

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Neck:
short neck

Skeletal Spine:
scoliosis
platyspondyly
lumbar hyperlordosis
cervical kyphosis
horizontal sacrum
more
Head And Neck Face:
micrognathia
midface hypoplasia

Chest Ribs Sternum Clavicles And Scapulae:
small thorax

Prenatal Manifestations Delivery:
stillborn or death shortly after birth

Laboratory Abnormalities:
lacunar halos around chondrocytes in skeletal cartilage

Respiratory Lung:
respiratory insufficiency
pulmonary hypoplasia

Head And Neck Mouth:
cleft palate

Skeletal Limbs:
talipes equinovarus
severe micromelia
bifid distal humerus
short, dumbbell femur
abducted thumbs and great toes
more
Skeletal Pelvis:
shortened sacroiliac notches
round-shaped iliac bones
flat acetabulae

Head And Neck Nose:
flattened nasal bridge

Clinical features from OMIM:

256050

Drugs & Therapeutics for Atelosteogenesis, Type Ii

Drugs for Atelosteogenesis, Type Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
2 Central Nervous System Depressants Phase 4,Not Applicable
3 Peripheral Nervous System Agents Phase 4
4 Adrenergic Agonists Phase 4
5 Adrenergic alpha-2 Receptor Agonists Phase 4
6 Neurotransmitter Agents Phase 4
7 Adrenergic alpha-Agonists Phase 4
8 Adrenergic Agents Phase 4
9 Analgesics Phase 4
10 Analgesics, Non-Narcotic Phase 4
11 Hypnotics and Sedatives Phase 4
12
Sargramostim Approved, Investigational Phase 2 123774-72-1, 83869-56-1
13 Immunologic Factors Phase 2
14
Nimodipine Approved, Investigational Not Applicable 66085-59-4 4497
15
Desflurane Approved Not Applicable 57041-67-5 42113
16 Anesthetics Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Dexmedetomidine Versus Standard Clinical Practice During Non Invasive Mechanical Ventilation Recruiting NCT02958150 Phase 4 Dexmedetomidine
2 Inhalation of Granulocyte-macrophage Colony-stimulating Factor (GM-CSF) for Autoimmune Pulmonary Alveolar Proteinosis (PAP) Unknown status NCT02243228 Phase 2 GM-CSF
3 Comparison of Gas Consumption From Two Different Anesthesia Machines Completed NCT02774031 Not Applicable

Search NIH Clinical Center for Atelosteogenesis, Type Ii

Genetic Tests for Atelosteogenesis, Type Ii

Genetic tests related to Atelosteogenesis, Type Ii:

# Genetic test Affiliating Genes
1 Atelosteogenesis Type 2 30 SLC26A2

Anatomical Context for Atelosteogenesis, Type Ii

MalaCards organs/tissues related to Atelosteogenesis, Type Ii:

42
Bone

Publications for Atelosteogenesis, Type Ii

Articles related to Atelosteogenesis, Type Ii:

(show all 11)
# Title Authors Year
1
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. ( 21077202 )
2010
2
A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia. ( 18708426 )
2008
3
Fetal MR imaging of atelosteogenesis type II (AO-II). ( 18716767 )
2008
4
A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia. ( 16642506 )
2006
5
Diagnosis of atelosteogenesis type II after a routine echography at 12 weeks' pregnancy. ( 16052470 )
2005
6
Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. ( 15316973 )
2004
7
Radiographic and morphologic findings in a previously undescribed type of mesomelic dysplasia resembling atelosteogenesis type II. ( 9843047 )
1998
8
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. ( 8571951 )
1996
9
De la Chapelle dysplasia (atelosteogenesis type II): case report and review of the literature [corrected]. ( 7632220 )
1994
10
Atelosteogenesis type II: sonographic and radiological correlation. ( 1279661 )
1992
11
de la Chapelle dysplasia. ( 3799721 )
1986

Variations for Atelosteogenesis, Type Ii

UniProtKB/Swiss-Prot genetic disease variations for Atelosteogenesis, Type Ii:

76
# Symbol AA change Variation ID SNP ID
1 SLC26A2 p.Gly255Glu VAR_007434 rs104893917
2 SLC26A2 p.Arg279Trp VAR_007435 rs104893915
3 SLC26A2 p.Ala715Val VAR_007439 rs104893918

ClinVar genetic disease variations for Atelosteogenesis, Type Ii:

6 (show top 50) (show all 76)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC26A2 NM_000112.3(SLC26A2): c.1724delA (p.Lys575Serfs) deletion Pathogenic rs386833498 GRCh38 Chromosome 5, 149981317: 149981317
2 SLC26A2 NM_000112.3(SLC26A2): c.1724delA (p.Lys575Serfs) deletion Pathogenic rs386833498 GRCh37 Chromosome 5, 149360880: 149360880
3 SLC26A2 NM_000112.3(SLC26A2): c.391delC (p.Leu131Cysfs) deletion Likely pathogenic rs786200881 GRCh37 Chromosome 5, 149357606: 149357606
4 SLC26A2 NM_000112.3(SLC26A2): c.391delC (p.Leu131Cysfs) deletion Likely pathogenic rs786200881 GRCh38 Chromosome 5, 149978043: 149978043
5 SLC26A2 NM_000112.3(SLC26A2): c.835C> T (p.Arg279Trp) single nucleotide variant Pathogenic rs104893915 GRCh37 Chromosome 5, 149359991: 149359991
6 SLC26A2 NM_000112.3(SLC26A2): c.835C> T (p.Arg279Trp) single nucleotide variant Pathogenic rs104893915 GRCh38 Chromosome 5, 149980428: 149980428
7 SLC26A2 NM_000112.3(SLC26A2): c.764G> A (p.Gly255Glu) single nucleotide variant Uncertain significance rs104893917 GRCh37 Chromosome 5, 149359920: 149359920
8 SLC26A2 NM_000112.3(SLC26A2): c.764G> A (p.Gly255Glu) single nucleotide variant Uncertain significance rs104893917 GRCh38 Chromosome 5, 149980357: 149980357
9 SLC26A2 NM_000112.3(SLC26A2): c.2144C> T (p.Ala715Val) single nucleotide variant Uncertain significance rs104893918 GRCh37 Chromosome 5, 149361300: 149361300
10 SLC26A2 NM_000112.3(SLC26A2): c.2144C> T (p.Ala715Val) single nucleotide variant Uncertain significance rs104893918 GRCh38 Chromosome 5, 149981737: 149981737
11 SLC26A2 NM_000112.3(SLC26A2): c.532C> T (p.Arg178Ter) single nucleotide variant Pathogenic rs104893919 GRCh37 Chromosome 5, 149357747: 149357747
12 SLC26A2 NM_000112.3(SLC26A2): c.532C> T (p.Arg178Ter) single nucleotide variant Pathogenic rs104893919 GRCh38 Chromosome 5, 149978184: 149978184
13 SLC26A2 NM_000112.3(SLC26A2): c.1957T> A (p.Cys653Ser) single nucleotide variant Pathogenic/Likely pathogenic rs104893924 GRCh37 Chromosome 5, 149361113: 149361113
14 SLC26A2 NM_000112.3(SLC26A2): c.1957T> A (p.Cys653Ser) single nucleotide variant Pathogenic/Likely pathogenic rs104893924 GRCh38 Chromosome 5, 149981550: 149981550
15 SLC26A2 NM_000112.3(SLC26A2): c.1535C> A (p.Thr512Lys) single nucleotide variant Pathogenic rs121908078 GRCh37 Chromosome 5, 149360691: 149360691
16 SLC26A2 NM_000112.3(SLC26A2): c.1535C> A (p.Thr512Lys) single nucleotide variant Pathogenic rs121908078 GRCh38 Chromosome 5, 149981128: 149981128
17 SLC26A2 NM_000112.3(SLC26A2): c.1394delT (p.Leu465Cysfs) deletion Likely pathogenic rs386833495 GRCh37 Chromosome 5, 149360550: 149360550
18 SLC26A2 NM_000112.3(SLC26A2): c.1394delT (p.Leu465Cysfs) deletion Likely pathogenic rs386833495 GRCh38 Chromosome 5, 149980987: 149980987
19 SLC26A2 NM_000112.3(SLC26A2): c.1650delG (p.Ser551Valfs) deletion Conflicting interpretations of pathogenicity rs386833497 GRCh37 Chromosome 5, 149360806: 149360806
20 SLC26A2 NM_000112.3(SLC26A2): c.1650delG (p.Ser551Valfs) deletion Conflicting interpretations of pathogenicity rs386833497 GRCh38 Chromosome 5, 149981243: 149981243
21 SLC26A2 NM_000112.3(SLC26A2): c.1976delT (p.Leu659Terfs) deletion Likely pathogenic rs386833499 GRCh37 Chromosome 5, 149361132: 149361132
22 SLC26A2 NM_000112.3(SLC26A2): c.1976delT (p.Leu659Terfs) deletion Likely pathogenic rs386833499 GRCh38 Chromosome 5, 149981569: 149981569
23 SLC26A2 NM_000112.3(SLC26A2): c.1474C> T (p.Arg492Trp) single nucleotide variant Benign/Likely benign rs78676079 GRCh37 Chromosome 5, 149360630: 149360630
24 SLC26A2 NM_000112.3(SLC26A2): c.1474C> T (p.Arg492Trp) single nucleotide variant Benign/Likely benign rs78676079 GRCh38 Chromosome 5, 149981067: 149981067
25 SLC26A2 NM_000112.3(SLC26A2): c.374A> T (p.Gln125Leu) single nucleotide variant Pathogenic rs875989951 GRCh37 Chromosome 5, 149357589: 149357589
26 SLC26A2 NM_000112.3(SLC26A2): c.374A> T (p.Gln125Leu) single nucleotide variant Pathogenic rs875989951 GRCh38 Chromosome 5, 149978026: 149978026
27 SLC26A2 NM_000112.3(SLC26A2): c.1410A> G (p.Val470=) single nucleotide variant Benign/Likely benign rs115777661 GRCh37 Chromosome 5, 149360566: 149360566
28 SLC26A2 NM_000112.3(SLC26A2): c.1410A> G (p.Val470=) single nucleotide variant Benign/Likely benign rs115777661 GRCh38 Chromosome 5, 149981003: 149981003
29 SLC26A2 NM_000112.3(SLC26A2): c.229A> C (p.Asn77His) single nucleotide variant Benign rs76784312 GRCh37 Chromosome 5, 149357444: 149357444
30 SLC26A2 NM_000112.3(SLC26A2): c.229A> C (p.Asn77His) single nucleotide variant Benign rs76784312 GRCh38 Chromosome 5, 149977881: 149977881
31 SLC26A2 NM_000112.3(SLC26A2): c.1081G> A (p.Ala361Thr) single nucleotide variant Uncertain significance rs139051143 GRCh37 Chromosome 5, 149360237: 149360237
32 SLC26A2 NM_000112.3(SLC26A2): c.1081G> A (p.Ala361Thr) single nucleotide variant Uncertain significance rs139051143 GRCh38 Chromosome 5, 149980674: 149980674
33 SLC26A2 NM_000112.3(SLC26A2): c.1744C> T (p.Arg582Cys) single nucleotide variant Uncertain significance rs142542254 GRCh38 Chromosome 5, 149981337: 149981337
34 SLC26A2 NM_000112.3(SLC26A2): c.1744C> T (p.Arg582Cys) single nucleotide variant Uncertain significance rs142542254 GRCh37 Chromosome 5, 149360900: 149360900
35 SLC26A2 NM_000112.3(SLC26A2): c.185C> G (p.Ser62Ter) single nucleotide variant Likely pathogenic rs1057517523 GRCh37 Chromosome 5, 149357400: 149357400
36 SLC26A2 NM_000112.3(SLC26A2): c.185C> G (p.Ser62Ter) single nucleotide variant Likely pathogenic rs1057517523 GRCh38 Chromosome 5, 149977837: 149977837
37 SLC26A2 NM_000112.3(SLC26A2): c.188delA (p.Asp63Valfs) deletion Likely pathogenic rs1057517496 GRCh38 Chromosome 5, 149977840: 149977840
38 SLC26A2 NM_000112.3(SLC26A2): c.188delA (p.Asp63Valfs) deletion Likely pathogenic rs1057517496 GRCh37 Chromosome 5, 149357403: 149357403
39 SLC26A2 NM_000112.3(SLC26A2): c.207delT (p.Phe69Leufs) deletion Likely pathogenic rs1057517462 GRCh38 Chromosome 5, 149977859: 149977859
40 SLC26A2 NM_000112.3(SLC26A2): c.207delT (p.Phe69Leufs) deletion Likely pathogenic rs1057517462 GRCh37 Chromosome 5, 149357422: 149357422
41 SLC26A2 NM_000112.3(SLC26A2): c.239_243dup (p.Pro82Alafs) duplication Likely pathogenic rs1057517504 GRCh38 Chromosome 5, 149977891: 149977895
42 SLC26A2 NM_000112.3(SLC26A2): c.239_243dup (p.Pro82Alafs) duplication Likely pathogenic rs1057517504 GRCh37 Chromosome 5, 149357454: 149357458
43 SLC26A2 NM_000112.3(SLC26A2): c.485_486delTG (p.Val162Glyfs) deletion Likely pathogenic rs763198695 GRCh37 Chromosome 5, 149357700: 149357701
44 SLC26A2 NM_000112.3(SLC26A2): c.485_486delTG (p.Val162Glyfs) deletion Likely pathogenic rs763198695 GRCh38 Chromosome 5, 149978137: 149978138
45 SLC26A2 NM_000112.3(SLC26A2): c.541C> T (p.Gln181Ter) single nucleotide variant Likely pathogenic rs1057517483 GRCh38 Chromosome 5, 149978193: 149978193
46 SLC26A2 NM_000112.3(SLC26A2): c.541C> T (p.Gln181Ter) single nucleotide variant Likely pathogenic rs1057517483 GRCh37 Chromosome 5, 149357756: 149357756
47 SLC26A2 NM_000112.3(SLC26A2): c.699+2T> C single nucleotide variant Pathogenic rs1057517461 GRCh38 Chromosome 5, 149978353: 149978353
48 SLC26A2 NM_000112.3(SLC26A2): c.699+2T> C single nucleotide variant Pathogenic rs1057517461 GRCh37 Chromosome 5, 149357916: 149357916
49 SLC26A2 NM_000112.3(SLC26A2): c.736_739delGTCT (p.Val246Thrfs) deletion Likely pathogenic rs1057517524 GRCh37 Chromosome 5, 149359892: 149359895
50 SLC26A2 NM_000112.3(SLC26A2): c.736_739delGTCT (p.Val246Thrfs) deletion Likely pathogenic rs1057517524 GRCh38 Chromosome 5, 149980329: 149980332

Expression for Atelosteogenesis, Type Ii

Search GEO for disease gene expression data for Atelosteogenesis, Type Ii.

Pathways for Atelosteogenesis, Type Ii

GO Terms for Atelosteogenesis, Type Ii

Sources for Atelosteogenesis, Type Ii

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10 dbSNP
11 DGIdb
17 EFO
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
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72 TGDB
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