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:6161
Name:Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Definition:
Alternative IDs:OMIM:607823
ParentIDs:MESH:D007039|MESH:D008209|MESH:D013684
TreeNumbers:C14.907.823/C564327 |C15.604.496/C564327 |C17.800.329.937/C564327
Synonyms:HLTS
Slim Mappings:Cardiovascular disease|Lymphatic disease|Skin disease
Reference: MedGen: C564327
MeSH: C564327
OMIM: 607823;
MSeqDR LSDB:  
Genes: SOX18;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000007Autosomal recessive inheritance
3 HP:0000164Abnormality of the dentition
4 HP:0001597Abnormality of the nail
5 HP:0002223Absent eyebrow
6 HP:0000561Absent eyelashes
7 HP:0001596Alopecia
8 HP:0000034Hydrocele testis
9 HP:0001006Hypotrichosis
10 HP:0001790Nonimmune hydrops fetalis
11 HP:0100869Palmar telangiectasia
12 HP:0100540Palpebral edema
13 HP:0003550Predominantly lower limb lymphedema
14 HP:0000963Thin skin
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_018419.3(SOX18):c.481C>T (p.Gln161Ter)54345SOX18Pathogenicrs794728015RCV000184062; NMONDO:MONDO:0011914,MedGen:C1843004,OMIM:607823, Orphanet:69735206268019362680193GANC_000020.10:g.62680193G>AClinGen:CA203864,OMIM:601618.0004C1843004 607823 Hypotrichosis-lymphedema-telangiectasia syndrome;
NM_018419.3(SOX18):c.310G>C (p.Ala104Pro)54345SOX18Pathogenicrs28936692RCV000008464; NMONDO:MONDO:0011914,MedGen:C1843004,OMIM:607823, Orphanet:69735206268056062680560CG20:g.62680560C>GClinGen:CA119194,UniProtKB:P35713#VAR_016211,OMIM:601618.0001C1843004 607823 Hypotrichosis-lymphedema-telangiectasia syndrome;
NM_018419.3(SOX18):c.283T>A (p.Trp95Arg)54345SOX18Pathogenicrs28936693RCV000008465; NMONDO:MONDO:0011914,MedGen:C1843004,OMIM:607823, Orphanet:69735206268058762680587AT20:g.62680587A>TClinGen:CA119195,UniProtKB:P35713#VAR_016210,OMIM:601618.0002C1843004 607823 Hypotrichosis-lymphedema-telangiectasia syndrome;
MSeqDR Portal