MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:10207
Name:SHORT syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D006130|MESH:D006934|MESH:D008659|MESH:D009397
TreeNumbers:C12.777.419.590/C537327 |C13.351.968.419.590/C537327 |C18.452.174.130.560/C537327 |C18.452.174.451/C537327 |C18.452.950.340/C537327 |C18.452/C537327 |C23.550.393/C537327
Synonyms:Lipodystrophy, Partial, With Rieger Anomaly, And Short Stature
Slim Mappings:Metabolic disease|Pathology (process)|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C537327
MeSH: C537327
OMIM: 269880;
MSeqDR LSDB:  
Genes: PIK3R1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0011362Abnormal hair quantitytypical
3 HP:0009124Abnormality of adipose tissuetypical
4 HP:0000682Abnormality of dental enameltypical
5 HP:0000593Abnormality of the anterior chamberhallmark
6 HP:0003272Abnormality of the hip boneoccasional
7 HP:0002715Abnormality of the immune system
8 HP:0000615Abnormality of the pupiltypical
9 HP:0008053Aplasia/Hypoplasia of the irishallmark
10 HP:0003561Birth length less than 3rd percentile
11 HP:0001156Brachydactyly syndromeoccasional
12 HP:0000518Cataract
NAMDC:  Cataracts
13 HP:0010751Chin dimple
14 HP:0030084Clinodactyly
15 HP:0004209Clinodactyly of the 5th fingeroccasional
16 HP:0000490Deeply set eye
17 HP:0000490Deeply set eyehallmark
18 HP:0000684Delayed eruption of teeth
19 HP:0002750Delayed skeletal maturation
20 HP:0000750Delayed speech and language development
NAMDC:  Delayed language
21 HP:0000689Dental malocclusion
22 HP:0000819Diabetes mellitus
NAMDC:  Diabetes mellitus
typical
23 HP:0010580Enlarged epiphyses
24 HP:0002007Frontal bossingoccasional
25 HP:0002007Frontal bossing
26 HP:0000501Glaucomatypical
27 HP:0000501Glaucoma
28 HP:0000833Glucose intolerance
29 HP:0001161Hand polydactylyoccasional
30 HP:0004299Hernia of the abdominal wallhallmark
31 HP:0003074Hyperglycemia
32 HP:0000316Hypertelorismoccasional
33 HP:0000668Hypodontia
34 HP:0010669Hypoplasia of the zygomatic boneoccasional
35 HP:0000023Inguinal hernia
36 HP:0000855Insulin resistancetypical
37 HP:0000831Insulin-resistant diabetes mellitus
38 HP:0001511Intrauterine growth retardation
39 HP:0001382Joint hypermobilityhallmark
40 HP:0001388Joint laxity
41 HP:0009125Lipodystrophy
42 HP:0000400Macrotia
43 HP:0000272Malar flatteningtypical
44 HP:0000485Megalocornea
45 HP:0000485Megalocorneatypical
46 HP:0000691Microdontiatypical
47 HP:0000347Micrognathia
48 HP:0000347Micrognathiaoccasional
49 HP:0000545Myopia
50 HP:0002486Myotoniaoccasional
51 HP:0000787Nephrolithiasisoccasional
52 HP:0002167Neurological speech impairmenttypical
53 HP:0007759Opacification of the corneal stromaoccasional
54 HP:0000627Posterior embryotoxonoccasional
55 HP:0100678Premature skin wrinkling
56 HP:0011220Prominent forehead
57 HP:0000336Prominent supraorbital ridgesoccasional
58 HP:0009466Radial deviation of finger
59 HP:0000558Rieger anomaly
60 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
61 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
hallmark
62 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
hallmark
63 HP:0001518Small for gestational age
64 HP:0000506Telecanthusoccasional
65 HP:0000506Telecanthus
66 HP:0000963Thin skin
67 HP:0000325Triangular faceoccasional
68 HP:0000325Triangular face
69 HP:0000430Underdeveloped nasal alae
70 HP:0001824Weight losstypical
71 HP:0000431Wide nasal bridge
72 HP:0000431Wide nasal bridgeoccasional
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_181523.2(PIK3R1):c.1106C>T (p.Thr369Ile)5295PIK3R1Likely pathogenic587784325RCV000147273; NMedGen:C0878684,OMIM:269880,ORPHA:316356758901567589015NM_181523.2:c.1106C>TNP_852664.1:p.Thr369IleNC_000005.9:g.67589015C>T-C0878684 269880 SHORT syndrome
NM_181523.2(PIK3R1):c.1460T>C (p.Phe487Ser)5295PIK3R1Likely pathogenic797045063RCV000191118; NMedGen:C0878684,OMIM:269880,ORPHA:316356759039867590398NM_181523.2:c.1460T>CNP_852664.1:p.Phe487SerNC_000005.9:g.67590398T>C-C0878684 269880 SHORT syndrome
NM_181523.2(PIK3R1):c.1465G>A (p.Glu489Lys)5295PIK3R1Pathogenic397514047RCV000054533; NMedGen:C0878684,OMIM:269880,ORPHA:316356759040367590403NM_181523.2:c.1465G>ANP_852664.1:p.Glu489LysNC_000005.9:g.67590403G>AOMIM Allelic Variant:171833.0003C0878684 269880 SHORT syndrome
NM_181523.2(PIK3R1):c.1615_1617delATT (p.Ile539del)5295PIK3R1Pathogenic397514046RCV000054532; NMedGen:C0878684,OMIM:269880,ORPHA:316356759102267591024NM_181523.2:c.1615_1617delATTNP_852664.1:p.Ile539delNC_000005.9:g.67591022_67591024delATTOMIM Allelic Variant:171833.0002C0878684 269880 SHORT syndrome
NM_181523.2(PIK3R1):c.1892G>A (p.Arg631Gln)5295PIK3R1Pathogenic515726149RCV000202555; NMedGen:C0878684,OMIM:269880,ORPHA:316356759207667592076NM_181523.2:c.1892G>ANP_852664.1:p.Arg631Gln5:g.67592076G>A-C0878684 269880 SHORT syndrome
NM_181523.2(PIK3R1):c.1906_1907insC (p.Asn636Thrfs)5295PIK3R1Pathogenic398122385RCV000054536; NMedGen:C0878684,OMIM:269880,ORPHA:316356759209067592091NM_181523.2:c.1906_1907insCNP_852664.1:p.Asn636ThrfsNC_000005.9:g.67592090_67592091insCOMIM Allelic Variant:171833.0006C0878684 269880 SHORT syndrome
NM_181523.2(PIK3R1):c.1906_1907delAA (p.Asn636Profs)5295PIK3R1Pathogenic515726150RCV000202470; NMedGen:C0878684,OMIM:269880,ORPHA:316356759209067592091NM_181523.2:c.1906_1907delAANP_852664.1:p.Asn636Profs-C0878684 269880 SHORT syndrome
NM_181523.2(PIK3R1):c.1943dupT (p.Arg649Profs)5295PIK3R1Pathogenic398122384RCV000054535; NMedGen:C0878684,OMIM:269880,ORPHA:316356759212767592127NM_181523.2:c.1943dupTNP_852664.1:p.Arg649ProfsNC_000005.9:g.67592127dupTOMIM Allelic Variant:171833.0005C0878684 269880 SHORT syndrome
NM_181523.2(PIK3R1):c.1945C>T (p.Arg649Trp)5295PIK3R1Pathogenic397515453RCV000054534; NMedGen:C0878684,OMIM:269880,ORPHA:316356759212967592129NM_181523.2:c.1945C>TNP_852664.1:p.Arg649TrpNC_000005.9:g.67592129C>TOMIM Allelic Variant:171833.0004C0878684 269880 SHORT syndrome
NM_181523.2(PIK3R1):c.1971T>G (p.Tyr657Ter)5295PIK3R1Pathogenic515726151RCV000202477; NMedGen:C0878684,OMIM:269880,ORPHA:316356759215567592155NM_181523.2:c.1971T>GNP_852664.1:p.Tyr657Ter5:g.67592155T>G-C0878684 269880 SHORT syndrome
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