MCID: SBR011
MIFTS: 19

Subaortic Stenosis--Short Stature Syndrome

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Subaortic Stenosis--Short Stature Syndrome

MalaCards integrated aliases for Subaortic Stenosis--Short Stature Syndrome:

Name: Subaortic Stenosis--Short Stature Syndrome 56
Onat Syndrome 56 52 58 71
Subaortic Stenosis Short Stature Syndrome 52
Subaortic Stenosis-Short Stature Syndrome 58

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
subaortic stenosis--short stature syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


Summaries for Subaortic Stenosis--Short Stature Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3191 Definition A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the association of short stature and progressive discrete subaortic stenosis. Additional variable manifestations include upturned nose, voice and vocal cord abnormalities, obstructive lung disease, inguinal hernia, kyphoscoliosis and, occasionally, epicanthus, strabismus , microphthalmos and widely spaced teeth. There have been no further descriptions in the literature since 1984. Visit the Orphanet disease page for more resources.

MalaCards based summary : Subaortic Stenosis--Short Stature Syndrome, is also known as onat syndrome. Affiliated tissues include lung and bone, and related phenotypes are anteverted nares and short stature

More information from OMIM: 271960

Related Diseases for Subaortic Stenosis--Short Stature Syndrome

Symptoms & Phenotypes for Subaortic Stenosis--Short Stature Syndrome

Human phenotypes related to Subaortic Stenosis--Short Stature Syndrome:

58 31 (show top 50) (show all 55)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 arrhythmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011675
4 abnormality of the voice 58 31 hallmark (90%) Very frequent (99-80%) HP:0001608
5 membranous subvalvular aortic stenosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005174
6 abnormal vocal cord morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0008777
7 inguinal hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000023
8 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
9 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
10 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
11 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
12 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
13 type ii diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0005978
14 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
15 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
16 microdontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000691
17 acne 58 31 occasional (7.5%) Occasional (29-5%) HP:0001061
18 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
19 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
20 bilateral single transverse palmar creases 58 31 occasional (7.5%) Occasional (29-5%) HP:0007598
21 low-set, posteriorly rotated ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000368
22 microphthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000568
23 synostosis of carpal bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0005048
24 biliary tract abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0001080
25 abnormal circulating lipid concentration 31 occasional (7.5%) HP:0003119
26 wide nasal bridge 31 HP:0000431
27 short nose 31 HP:0003196
28 opacification of the corneal stroma 31 HP:0007759
29 strabismus 31 HP:0000486
30 flat face 31 HP:0012368
31 narrow mouth 31 HP:0000160
32 growth delay 31 HP:0001510
33 wide intermamillary distance 31 HP:0006610
34 low-set ears 31 HP:0000369
35 shield chest 31 HP:0000914
36 pectus excavatum 31 HP:0000767
37 short toe 31 HP:0001831
38 abnormality of lipid metabolism 58 Occasional (29-5%)
39 hypoplasia of the maxilla 31 HP:0000327
40 glaucoma 31 HP:0000501
41 malar flattening 31 HP:0000272
42 round face 31 HP:0000311
43 small hand 31 HP:0200055
44 microcornea 31 HP:0000482
45 midface retrusion 31 HP:0011800
46 broad finger 31 HP:0001500
47 short foot 31 HP:0001773
48 short palm 31 HP:0004279
49 short phalanx of finger 31 HP:0009803
50 subaortic stenosis 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Neck:
short neck

Head And Neck Face:
flat face
round face
midface hypoplasia
small maxilla

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Head And Neck Teeth:
diastema

Growth Other:
growth retardation

Neurologic Central Nervous System:
mental retardation

Skeletal Hands:
small hands
broad, short fingers

Chest External Features:
broad chest

Head And Neck Eyes:
strabismus
glaucoma
microphthalmia
microcornea
epicanthal folds
more
Head And Neck Ears:
low-set ears

Cardiovascular Heart:
membranous subvalvular aortic stenosis

Head And Neck Mouth:
short upper lip
microstomia
short, broad palate

Head And Neck Nose:
broad nasal bridge
anteverted nostrils
small nose

Chest Breasts:
widely spaced nipples

Skeletal Feet:
small feet
broad, short toes

Clinical features from OMIM:

271960

Drugs & Therapeutics for Subaortic Stenosis--Short Stature Syndrome

Search Clinical Trials , NIH Clinical Center for Subaortic Stenosis--Short Stature Syndrome

Genetic Tests for Subaortic Stenosis--Short Stature Syndrome

Anatomical Context for Subaortic Stenosis--Short Stature Syndrome

MalaCards organs/tissues related to Subaortic Stenosis--Short Stature Syndrome:

40
Lung, Bone

Publications for Subaortic Stenosis--Short Stature Syndrome

Articles related to Subaortic Stenosis--Short Stature Syndrome:

# Title Authors PMID Year
1
Discrete subaortic stenosis as part of a short stature syndrome. 56
6537946 1984
2
Corneal clouding, subvalvular aortic stenosis, and midfacial hypoplasia associated with mental deficiency and growth retardation--a new syndrome? 56
573203 1979

Variations for Subaortic Stenosis--Short Stature Syndrome

Expression for Subaortic Stenosis--Short Stature Syndrome

Search GEO for disease gene expression data for Subaortic Stenosis--Short Stature Syndrome.

Pathways for Subaortic Stenosis--Short Stature Syndrome

GO Terms for Subaortic Stenosis--Short Stature Syndrome

Sources for Subaortic Stenosis--Short Stature Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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