MCID: SBR011
MIFTS: 18

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 57
Onat Syndrome 57 53 59 72
Subaortic Stenosis Short Stature Syndrome 53
Subaortic Stenosis-Short Stature Syndrome 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
subaortic stenosis--short stature syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 271960
UMLS via Orphanet 73 C0795947
Orphanet 59 ORPHA3191
MedGen 42 C0795947
UMLS 72 C0795947

Summaries for Subaortic Stenosis--Short Stature Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3191DefinitionA 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:

59 32 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
2 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
3 arrhythmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0011675
4 abnormality of the voice 59 32 hallmark (90%) Very frequent (99-80%) HP:0001608
5 membranous subvalvular aortic stenosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005174
6 abnormal vocal cord morphology 32 hallmark (90%) HP:0008777
7 obesity 59 32 frequent (33%) Frequent (79-30%) HP:0001513
8 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
9 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
10 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
11 inguinal hernia 59 32 frequent (33%) Frequent (79-30%) HP:0000023
12 short neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000470
13 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
14 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
15 type ii diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0005978
16 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
17 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
18 microdontia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000691
19 acne 59 32 occasional (7.5%) Occasional (29-5%) HP:0001061
20 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
21 low-set, posteriorly rotated ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000368
22 biliary tract abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0001080
23 bilateral single transverse palmar creases 59 32 occasional (7.5%) Occasional (29-5%) HP:0007598
24 synostosis of carpal bones 59 32 occasional (7.5%) Occasional (29-5%) HP:0005048
25 abnormal circulating lipid concentration 32 occasional (7.5%) HP:0003119
26 malar flattening 32 HP:0000272
27 low-set ears 32 HP:0000369
28 pectus excavatum 32 HP:0000767
29 wide nasal bridge 32 HP:0000431
30 short nose 32 HP:0003196
31 opacification of the corneal stroma 32 HP:0007759
32 strabismus 32 HP:0000486
33 short palm 32 HP:0004279
34 short foot 32 HP:0001773
35 narrow mouth 32 HP:0000160
36 flat face 32 HP:0012368
37 growth delay 32 HP:0001510
38 wide intermamillary distance 32 HP:0006610
39 shield chest 32 HP:0000914
40 short toe 32 HP:0001831
41 small hand 32 HP:0200055
42 abnormality of lipid metabolism 59 Occasional (29-5%)
43 hypoplasia of the maxilla 32 HP:0000327
44 glaucoma 32 HP:0000501
45 round face 32 HP:0000311
46 midface retrusion 32 HP:0011800
47 microcornea 32 HP:0000482
48 broad finger 32 HP:0001500
49 short phalanx of finger 32 HP:0009803
50 barrel-shaped chest 32 HP:0001552

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

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

Cardiovascular Heart:
membranous subvalvular aortic stenosis

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 Neck:
short neck

Head And Neck Eyes:
strabismus
microphthalmia
glaucoma
microcornea
epicanthal folds
more
Head And Neck Mouth:
short upper lip
microstomia
short, broad palate

Head And Neck Teeth:
diastema

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:

41
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. 8
6537946 1984
2
Corneal clouding, subvalvular aortic stenosis, and midfacial hypoplasia associated with mental deficiency and growth retardation--a new syndrome? 8
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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