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AO2
MCID: ATL015
MIFTS: 30

Atelosteogenesis, Type Ii (AO2)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Atelosteogenesis, Type Ii

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MalaCards integrated aliases for Atelosteogenesis, Type Ii:

Name: Atelosteogenesis, Type Ii 57 76 55 40
De La Chapelle Dysplasia 57 24 53 25 6 73
Atelosteogenesis Type 2 24 53 25 29 6 73
Ao2 57 53 25 75
Neonatal Osseous Dysplasia 1 53 25 75
Atelosteogenesis Type Ii 75 37
Mcalister Dysplasia 24 25
Atelosteogenesis Ii 53 13
Aoii 57 53
Atelosteogenesis De La Chapelle Type 25
Neonatal Osseous Dysplasia Type I 75
Neonatal Osseous Dysplasia I 57
Atelosteogenesis, Type 2 25
Atelosteogenesis 2 75
Ao-Ii 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
atelosteogenesis, type ii:
Mortality/Aging stillbirth
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Neuronal diseases
See all MalaCards categories (disease lists)


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Summaries for Atelosteogenesis, Type Ii

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NIH Rare Diseases : 53 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 : 25 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 : 75 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 : 76 Atelosteogenesis, type II is a severe disorder of cartilage and bone development. It is rare, and... more...

Description from OMIM: 256050
GeneReviews: NBK1317
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Related Diseases for Atelosteogenesis, Type Ii

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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 10.3

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Symptoms & Phenotypes for Atelosteogenesis, Type Ii

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Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Atelosteogenesis, Type Ii:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 short neck 32 HP:0000470
3 respiratory insufficiency 32 HP:0002093
4 scoliosis 32 HP:0002650
5 depressed nasal bridge 32 HP:0005280
6 abnormality of metabolism/homeostasis 32 HP:0001939
7 cleft palate 32 HP:0000175
8 micrognathia 32 HP:0000347
9 platyspondyly 32 HP:0000926
10 micromelia 32 HP:0002983
11 talipes equinovarus 32 HP:0001762
12 sandal gap 32 HP:0001852
13 midface retrusion 32 HP:0011800
14 flat acetabular roof 32 HP:0003180
15 pulmonary hypoplasia 32 HP:0002089
16 thoracic hypoplasia 32 HP:0005257
17 lumbar hyperlordosis 32 HP:0002938
18 short middle phalanx of finger 32 HP:0005819
19 coronal cleft vertebrae 32 HP:0003417
20 short sacroiliac notch 32 HP:0003185
21 cervical kyphosis 32 HP:0002947
22 horizontal sacrum 32 HP:0003440
23 dumbbell-shaped femur 32 HP:0006375
Sources

Drugs & Therapeutics for Atelosteogenesis, Type Ii

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

(show all 14)
# 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 Analgesics Phase 4
4 Analgesics, Non-Narcotic Phase 4
5 Adrenergic Agonists Phase 4
6 Hypnotics and Sedatives Phase 4
7 Adrenergic alpha-Agonists Phase 4
8 Adrenergic alpha-2 Receptor Agonists Phase 4
9 Peripheral Nervous System Agents Phase 4
10 Neurotransmitter Agents Phase 4
11 Adrenergic Agents Phase 4
12
Desflurane Approved Not Applicable 57041-67-5 42113
13
Nimodipine Approved, Investigational Not Applicable 66085-59-4 4497
14 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

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Genetic Tests for Atelosteogenesis, Type Ii

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Genetic tests related to Atelosteogenesis, Type Ii:

# Genetic test Affiliating Genes
1 Atelosteogenesis Type 2 29 SLC26A2
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Anatomical Context for Atelosteogenesis, Type Ii

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MalaCards organs/tissues related to Atelosteogenesis, Type Ii:

41
Bone
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Publications for Atelosteogenesis, Type Ii

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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
Sources

Variations for Atelosteogenesis, Type Ii

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

75
# 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_243dupGCAGT (p.Pro82Alafs) duplication Likely pathogenic rs1057517504 GRCh38 Chromosome 5, 149977891: 149977895
42 SLC26A2 NM_000112.3(SLC26A2): c.239_243dupGCAGT (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 rs1057517527 GRCh37 Chromosome 5, 149357700: 149357701
44 SLC26A2 NM_000112.3(SLC26A2): c.485_486delTG (p.Val162Glyfs) deletion Likely pathogenic rs1057517527 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
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Expression for Atelosteogenesis, Type Ii

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

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GO Terms for Atelosteogenesis, Type Ii

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Sources for Atelosteogenesis, Type Ii

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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