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 eyehallmark
17 HP:0000490Deeply set eye
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 bossing
25 HP:0002007Frontal bossingoccasional
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:0000485Megalocorneatypical
45 HP:0000485Megalocornea
46 HP:0000691Microdontiatypical
47 HP:0000347Micrognathiaoccasional
48 HP:0000347Micrognathia
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
hallmark
61 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
62 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
hallmark
63 HP:0001518Small for gestational age
64 HP:0000506Telecanthus
65 HP:0000506Telecanthusoccasional
66 HP:0000963Thin skin
67 HP:0000325Triangular face
68 HP:0000325Triangular faceoccasional
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.65T>C (p.Ile22Thr)5295PIK3R1Uncertain significance150689648RCV000535880; RCV000535880; RCV000535880; NMedGen:C3554689,OMIM:615214; MedGen:C4014934,OMIM:616005; MedGen:C0878684,OMIM:26988056752256867522568-C3554689 615214 Agammaglobulinemia 7, autosomal recessive;
NM_181523.2(PIK3R1):c.195A>G (p.Glu65=)5295PIK3R1Benign73768883RCV000532886; RCV000532886; RCV000532886; NMedGen:C3554689,OMIM:615214; MedGen:C4014934,OMIM:616005; MedGen:C0878684,OMIM:26988056752269867522698-C3554689 615214 Agammaglobulinemia 7, autosomal recessive;
NM_181523.2(PIK3R1):c.202G>A (p.Asp68Asn)5295PIK3R1Uncertain significance755043940RCV000545810; RCV000545810; RCV000545810; NMedGen:C3554689,OMIM:615214; MedGen:C4014934,OMIM:616005; MedGen:C0878684,OMIM:26988056752270567522705-C3554689 615214 Agammaglobulinemia 7, autosomal recessive;
NM_181523.2(PIK3R1):c.504T>A (p.Asp168Glu)5295PIK3R1Uncertain significance-1RCV000697337; RCV000697337; RCV000697337; NMedGen:C3554689,OMIM:615214; MedGen:C4014934,OMIM:616005; MedGen:C0878684,OMIM:26988056757543167575431-C3554689 615214 Agammaglobulinemia 7, autosomal recessive;
NM_181523.2(PIK3R1):c.536T>C (p.Val179Ala)5295PIK3R1not provided-1RCV000709969; RCV000709969; RCV000709969; NMedGen:C3554689,OMIM:615214; MedGen:C4014934,OMIM:616005; MedGen:C0878684,OMIM:26988056757546367575463-
NM_181523.2(PIK3R1):c.571C>T (p.Leu191=)5295PIK3R1Benign533077843RCV000534240; RCV000534240; RCV000534240; NMedGen:C3554689,OMIM:615214; MedGen:C4014934,OMIM:616005; MedGen:C0878684,OMIM:26988056757549867575498-C3554689 615214 Agammaglobulinemia 7, autosomal recessive;
NM_181523.2(PIK3R1):c.611G>A (p.Ser204Asn)5295PIK3R1Uncertain significance-1RCV000688961; RCV000688961; RCV000688961; NMedGen:C3554689,OMIM:615214; MedGen:C4014934,OMIM:616005; MedGen:C0878684,OMIM:26988056757553867575538-C3554689 615214 Agammaglobulinemia 7, autosomal recessive;
NM_181523.2(PIK3R1):c.621T>C (p.Ile207=)5295PIK3R1Benign/Likely benign61749601RCV000551418; RCV000551418; RCV000551418; RCV000755597; RCV000147278; NMedGen:C3554689,OMIM:615214; MedGen:C4014934,OMIM:616005; MedGen:C0878684,OMIM:269880; MedGen:CN517202; MedGen:CN16937456757554867575548-C3554689 615214 Agammaglobulinemia 7, autosomal recessive;
NM_181523.2(PIK3R1):c.634+8T>C5295PIK3R1Likely benign368138177RCV000559702; RCV000559702; RCV000559702; RCV000507353; NMedGen:C3554689,OMIM:615214; MedGen:C4014934,OMIM:616005; MedGen:C0878684,OMIM:269880; MedGen:CN16937456757556967575569-C3554689 615214 Agammaglobulinemia 7, autosomal recessive;
NM_181523.2(PIK3R1):c.635-7C>G5295PIK3R1Uncertain significance-1RCV000702093; RCV000702093; RCV000702093; NMedGen:C3554689,OMIM:615214; MedGen:C4014934,OMIM:616005; MedGen:C0878684,OMIM:26988056757634967576349-C3554689 615214 Agammaglobulinemia 7, autosomal recessive;
NM_181523.2(PIK3R1):c.649G>A (p.Glu217Lys)5295PIK3R1Uncertain significance-1RCV000698771; RCV000698771; RCV000698771; NMedGen:C3554689,OMIM:615214; MedGen:C4014934,OMIM:616005; MedGen:C0878684,OMIM:26988056757637067576370-C3554689 615214 Agammaglobulinemia 7, autosomal recessive;
NM_181523.2(PIK3R1):c.687G>A (p.Ser229=)5295PIK3R1Benign34175949RCV000548238; RCV000548238; RCV000548238; NMedGen:C3554689,OMIM:615214; MedGen:C4014934,OMIM:616005; MedGen:C0878684,OMIM:26988056757640867576408-C3554689 615214 Agammaglobulinemia 7, autosomal recessive;
NM_181523.2(PIK3R1):c.837-7C>T5295PIK3R1Benign571365105RCV000528873; RCV000528873; RCV000528873; NMedGen:C3554689,OMIM:615214; MedGen:C4014934,OMIM:616005; MedGen:C0878684,OMIM:26988056757674867576748-C3554689 615214 Agammaglobulinemia 7, autosomal recessive;
NM_181523.2(PIK3R1):c.911C>T (p.Ala304Val)5295PIK3R1Uncertain significance1554049827RCV000662009; NMedGen:C0878684,OMIM:26988056757682967576829-C0878684 269880 SHORT syndrome;
NM_181523.3(PIK3R1):c.917-1513G>T5295PIK3R1Uncertain significance-1RCV000768046; RCV000768046; RCV000768046; NMedGen:C3554689,OMIM:615214; MedGen:C4014934,OMIM:616005; MedGen:C0878684,OMIM:26988056758657467586574-
NM_181523.2(PIK3R1):c.961G>A (p.Gly321Ser)5295PIK3R1Uncertain significance142439210RCV000547518; RCV000547518; RCV000547518; NMedGen:C3554689,OMIM:615214; MedGen:C4014934,OMIM:616005; MedGen:C0878684,OMIM:26988056758813167588131-C3554689 615214 Agammaglobulinemia 7, autosomal recessive;
NM_181523.2(PIK3R1):c.1019+6G>C5295PIK3R1Uncertain significance749016701RCV000638596; RCV000638596; RCV000638596; NMedGen:C3554689,OMIM:615214; MedGen:C4014934,OMIM:616005; MedGen:C0878684,OMIM:26988056758819567588195-C3554689 615214 Agammaglobulinemia 7, autosomal recessive;
NM_181523.2(PIK3R1):c.1020-3C>T5295PIK3R1Uncertain significance200653607RCV000638597; RCV000638597; RCV000638597; NMedGen:C3554689,OMIM:615214; MedGen:C4014934,OMIM:616005; MedGen:C0878684,OMIM:26988056758892667588926-C3554689 615214 Agammaglobulinemia 7, autosomal recessive;
NM_181523.2(PIK3R1):c.1106C>T (p.Thr369Ile)5295PIK3R1Likely pathogenic587784325RCV000147273; NMedGen:C0878684,OMIM:26988056758901567589015-C0878684 269880 SHORT syndrome;
NM_181523.2(PIK3R1):c.1176C>T (p.Phe392=)5295PIK3R1Benign/Likely benign3730090RCV000638599; RCV000638599; RCV000638599; RCV000147274; NMedGen:C3554689,OMIM:615214; MedGen:C4014934,OMIM:616005; MedGen:C0878684,OMIM:269880; MedGen:CN16937456758918867589188-C3554689 615214 Agammaglobulinemia 7, autosomal recessive;
NM_181523.2(PIK3R1):c.1185A>G (p.Pro395=)5295PIK3R1Conflicting interpretations of pathogenicity149905863RCV000638598; RCV000638598; RCV000638598; RCV000659016; NMedGen:C3554689,OMIM:615214; MedGen:C4014934,OMIM:616005; MedGen:C0878684,OMIM:269880; MedGen:CN51720256758919767589197-C3554689 615214 Agammaglobulinemia 7, autosomal recessive;
NM_181523.2(PIK3R1):c.1300-10A>C5295PIK3R1Likely benign377666209RCV000638600; RCV000638600; RCV000638600; NMedGen:C3554689,OMIM:615214; MedGen:C4014934,OMIM:616005; MedGen:C0878684,OMIM:26988056758952767589527-C3554689 615214 Agammaglobulinemia 7, autosomal recessive;
NM_181523.2(PIK3R1):c.1396T>C (p.Leu466=)5295PIK3R1Likely benign754454562RCV000638601; RCV000638601; RCV000638601; NMedGen:C3554689,OMIM:615214; MedGen:C4014934,OMIM:616005; MedGen:C0878684,OMIM:26988056758963367589633-C3554689 615214 Agammaglobulinemia 7, autosomal recessive;
NM_181523.2(PIK3R1):c.1425+1G>A5295PIK3R1Pathogenic587777709RCV000705809; RCV000515768; RCV000705809; RCV000705809; RCV000413301; NMedGen:C3554689,OMIM:615214; MedGen:C4014934,OMIM:616005; MedGen:C4014934,OMIM:616005; MedGen:C0878684,OMIM:269880; MedGen:CN51720256758966367589663OMIM Allelic Variant:171833.0009C3554689 615214 Agammaglobulinemia 7, autosomal recessive;
NM_181523.2(PIK3R1):c.1460T>C (p.Phe487Ser)5295PIK3R1Likely pathogenic797045063RCV000191118; NMedGen:C0878684,OMIM:26988056759039867590398-C0878684 269880 SHORT syndrome;
NM_181523.2(PIK3R1):c.1465G>A (p.Glu489Lys)5295PIK3R1Pathogenic397514047RCV000054533; NMedGen:C0878684,OMIM:26988056759040367590403OMIM Allelic Variant:171833.0003,UniProtKB (protein):P27986#VAR_070221C0878684 269880 SHORT syndrome;
NM_181523.2(PIK3R1):c.1615_1617delATT (p.Ile539del)5295PIK3R1Uncertain significance397514046RCV000623355; RCV000054532; NMeSH:D030342,MedGen:C0950123; MedGen:C0878684,OMIM:26988056759102267591024OMIM Allelic Variant:171833.0002C0950123 Inborn genetic diseases;
NM_181523.2(PIK3R1):c.1710dup (p.Ile571Tyrfs)5295PIK3R1Pathogenic-1RCV000692460; RCV000692460; RCV000692460; NMedGen:C3554689,OMIM:615214; MedGen:C4014934,OMIM:616005; MedGen:C0878684,OMIM:26988056759111767591117-C3554689 615214 Agammaglobulinemia 7, autosomal recessive;
NM_181523.2(PIK3R1):c.1892G>A (p.Arg631Gln)5295PIK3R1Pathogenic515726149RCV000202555; NMedGen:C0878684,OMIM:26988056759207667592076-C0878684 269880 SHORT syndrome;
NM_181523.2(PIK3R1):c.1906_1907insC (p.Asn636Thrfs)5295PIK3R1Pathogenic398122385RCV000054536; NMedGen:C0878684,OMIM:26988056759209067592091OMIM Allelic Variant:171833.0006C0878684 269880 SHORT syndrome;
NM_181523.2(PIK3R1):c.1906_1907delAA (p.Asn636Profs)5295PIK3R1Pathogenic515726150RCV000202470; NMedGen:C0878684,OMIM:26988056759209067592091-C0878684 269880 SHORT syndrome;
NM_181523.2(PIK3R1):c.1943dupT (p.Arg649Profs)5295PIK3R1Pathogenic398122384RCV000054535; NMedGen:C0878684,OMIM:26988056759212767592127OMIM Allelic Variant:171833.0005C0878684 269880 SHORT syndrome;
NM_181523.2(PIK3R1):c.1945C>T (p.Arg649Trp)5295PIK3R1Pathogenic397515453RCV000515192; RCV000515192; RCV000054534; RCV000515192; RCV000414540; NMedGen:C3554689,OMIM:615214; MedGen:C4014934,OMIM:616005; MedGen:C0878684,OMIM:269880; MedGen:C0878684,OMIM:269880; MedGen:CN51720256759212967592129OMIM Allelic Variant:171833.0004,UniProtKB (protein):P27986#VAR_070223C3554689 615214 Agammaglobulinemia 7, autosomal recessive;
NM_181523.2(PIK3R1):c.1971T>G (p.Tyr657Ter)5295PIK3R1Pathogenic515726151RCV000202477; NMedGen:C0878684,OMIM:26988056759215567592155-C0878684 269880 SHORT syndrome;
NM_181523.2(PIK3R1):c.2109T>C (p.Leu703=)5295PIK3R1Benign/Likely benign3729981RCV000558342; RCV000558342; RCV000558342; RCV000147275; NMedGen:C3554689,OMIM:615214; MedGen:C4014934,OMIM:616005; MedGen:C0878684,OMIM:269880; MedGen:CN16937456759336367593363-C3554689 615214 Agammaglobulinemia 7, autosomal recessive;
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