MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Hypotrichosis (D007039)
Parent Node: Lymphedema (D008209)
Parent Node: Telangiectasis (D013684)
..Starting node ..Hypotrichosis-Lymphedema-Telangiectasia Syndrome (C564327)
Child Nodes:
........HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
Sister Nodes:
..Ataxia Telangiectasia (D001260) 6
..CREST Syndrome (D017675)
..CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL (OMIM:614564)
..Cutis marmorata telangiectatica congenita (C536226)
..Epilepsy telangiectasia (C535497)
..Frenkel Russe syndrome (C535638)
..Glomerulonephritis sparse hair telangiectases (C536825)
..Hypotrichosis-Lymphedema-Telangiectasia Syndrome (C564327)
..Megalencephaly cutis marmorata telangiectatica congenita (C536142)
..Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related (C563358)
..Retinal Telangiectasis (D058456) 1
..REYNOLDS SYNDROME (OMIM:613471)
..Telangiectasia, Generalized Essential (C562998)
..Telangiectasia, Hereditary Benign (C562908)
..Telangiectasia, Hereditary Hemorrhagic (D013683) 4
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

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 :
Genes: SOX18;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0000164	Abnormality of the dentition
4	HP:0001597	Abnormality of the nail
5	HP:0002223	Absent eyebrow
6	HP:0000561	Absent eyelashes
7	HP:0001596	Alopecia
8	HP:0000034	Hydrocele testis
9	HP:0001006	Hypotrichosis
10	HP:0001790	Nonimmune hydrops fetalis
11	HP:0100869	Palmar telangiectasia
12	HP:0100540	Palpebral edema
13	HP:0003550	Predominantly lower limb lymphedema
14	HP:0000963	Thin skin

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_018419.3(SOX18):c.481C>T (p.Gln161Ter)	54345	SOX18	Pathogenic	rs794728015	RCV000184062;	N	MONDO:MONDO:0011914,MedGen:C1843004,OMIM:607823, Orphanet:69735	20	62680193	62680193	G	A	NC_000020.10:g.62680193G>A	ClinGen:CA203864,OMIM:601618.0004	C1843004 607823 Hypotrichosis-lymphedema-telangiectasia syndrome;
NM_018419.3(SOX18):c.310G>C (p.Ala104Pro)	54345	SOX18	Pathogenic	rs28936692	RCV000008464;	N	MONDO:MONDO:0011914,MedGen:C1843004,OMIM:607823, Orphanet:69735	20	62680560	62680560	C	G	20:g.62680560C>G	ClinGen:CA119194,UniProtKB:P35713#VAR_016211,OMIM:601618.0001	C1843004 607823 Hypotrichosis-lymphedema-telangiectasia syndrome;
NM_018419.3(SOX18):c.283T>A (p.Trp95Arg)	54345	SOX18	Pathogenic	rs28936693	RCV000008465;	N	MONDO:MONDO:0011914,MedGen:C1843004,OMIM:607823, Orphanet:69735	20	62680587	62680587	A	T	20:g.62680587A>T	ClinGen:CA119195,UniProtKB:P35713#VAR_016210,OMIM:601618.0002	C1843004 607823 Hypotrichosis-lymphedema-telangiectasia syndrome;

MSeqDR Portal