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Hello! Guest! Please Login or Register! Clinician Mode

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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Contracture (D003286)
Parent Node: Hearing Loss, Sensorineural (D006319)
Parent Node: Histiocytosis (D015614)
..Starting node ..Histiocytosis with joint contractures and sensorineural deafness (C538322)
Child Nodes:
Sister Nodes:
..Histiocytic Disorders, Malignant (D015620) 4
..Histiocytosis with joint contractures and sensorineural deafness (C538322)
..Histiocytosis, Familial Lipochrome (C562738)
..Histiocytosis, Langerhans-Cell (D006646) 3
..Histiocytosis, Non-Langerhans-Cell (D015616) 19
..Histiocytosis, Progressive Mucinous (C564186)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5222

Name:

Histiocytosis with joint contractures and sensorineural deafness

Definition:

Alternative IDs:

OMIM:602782

ParentIDs:

MESH:D003286|MESH:D006319|MESH:D015614

TreeNumbers:

C05.550.323/C538322 |C05.651.197/C538322 |C09.218.458.341.887/C538322 |C10.597.751.418.341.887/C538322 |C15.604.250/C538322 |C23.888.592.763.393.341.887/C538322

Synonyms:

Faisalabad histiocytosis |HISTIOCYTOSIS AND LYMPHADENOPATHY WITH OR WITHOUT CUTANEOUS, CARDIAC, AND/OR ENDOCRINE FEATURES, JOINT CONTRACTURES, AND/OR DEAFNESS |HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME |HISTIOCYTOSIS WITH JOINT CONTRACTURES AND SENSORINEU

Slim Mappings:

Ear-nose-throat disease|Lymphatic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C538322
MeSH: C538322
OMIM: 602782;

Genes: AF8T; SLC29A3;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001631	Atrial septal defect	HP:0040283
3	HP:0012385	Camptodactyly
4	HP:0001640	Cardiomegaly	HP:0040283
5	HP:0025289	Cervical lymphadenopathy
6	HP:0030084	Clinodactyly
7	HP:0000824	Decreased response to growth hormone stimulation test
8	HP:0000819	Diabetes mellitus
9	HP:0002987	Elbow flexion contracture
10	HP:0100534	Episcleritis
11	HP:0001945	Fever
12	HP:0001822	Hallux valgus
13	HP:0002240	Hepatomegaly
14	HP:0100727	Histiocytosis
15	HP:0000815	Hypergonadotropic hypogonadism
16	HP:0001634	Mitral valve prolapse	HP:0040283
17	HP:0002594	Pancreatic hypoplasia	HP:0040283
18	HP:0003812	Phenotypic variability
19	HP:0000520	Proptosis
20	HP:0005200	Retroperitoneal fibrosis	HP:0040283
21	HP:0000407	Sensorineural hearing impairment
22	HP:0004322	Short stature
23	HP:0001744	Splenomegaly
24	HP:0001629	Ventricular septal defect	HP:0040283

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_018344.5(SLC29A3):c.73C>T (p.Arg25Ter)	55315	SLC29A3	Pathogenic	746408350	RCV000192336;	N	MedGen:C1864445,OMIM:602782	10	73082584	73082584	NM_018344.5:c.73C>T	NP_060814.4:p.Arg25Ter	NC_000010.10:g.73082584C>T	-	C1864445 602782 Histiocytosis-lymphadenopathy plus syndrome
NM_018344.5(SLC29A3):c.300+1G>A	55315	SLC29A3	Pathogenic	587780463	RCV000118377;	N	MedGen:C1864445,OMIM:602782	10	73082812	73082812	NM_018344.5:c.300+1G>A		NC_000010.10:g.73082812G>A	-	C1864445 602782 Histiocytosis-lymphadenopathy plus syndrome
NM_018344.5(SLC29A3):c.308_309delTT (p.Phe103Terfs)	55315	SLC29A3	Pathogenic	796052139	RCV000023937;	N	MedGen:C1864445,OMIM:602782	10	73103973	73103974	NM_018344.5:c.308_309delTT	NP_060814.4:p.Phe103Terfs	NC_000010.10:g.73103973_73103974delTT	OMIM Allelic Variant:612373.0009	C1864445 602782 Histiocytosis-lymphadenopathy plus syndrome
NM_018344.5(SLC29A3):c.347T>G (p.Met116Arg)	55315	SLC29A3	Pathogenic	267607057	RCV000000598;	N	MedGen:C1864445,OMIM:602782	10	73104012	73104012	NM_018344.5:c.347T>G	NP_060814.4:p.Met116Arg	NC_000010.10:g.73104012T>G	OMIM Allelic Variant:612373.0006	C1864445 602782 Histiocytosis-lymphadenopathy plus syndrome
NM_018344.5(SLC29A3):c.607T>C (p.Ser203Pro)	55315	SLC29A3	Pathogenic	397514626	RCV000033098;	N	MedGen:C1864445,OMIM:602782	10	73111542	73111542	NM_018344.5:c.607T>C	NP_060814.4:p.Ser203Pro	NC_000010.10:g.73111542T>C	OMIM Allelic Variant:612373.0014	C1864445 602782 Histiocytosis-lymphadenopathy plus syndrome
NM_018344.5(SLC29A3):c.940delT (p.Tyr314Thrfs)	55315	SLC29A3	Pathogenic	869025177	RCV000000597;	N	MedGen:C1864445,OMIM:602782	10	73121877	73121877	NM_018344.5:c.940delT	NP_060814.4:p.Tyr314Thrfs	NC_000010.10:g.73121877delT	OMIM Allelic Variant:612373.0005,SLC29A3 @ LOVD:SLC29A3_00005	C1864445 602782 Histiocytosis-lymphadenopathy plus syndrome
NM_018344.5(SLC29A3):c.1045delC (p.Leu349Serfs)	55315	SLC29A3	Pathogenic	869025176	RCV000000596;	N	MedGen:C1864445,OMIM:602782	10	73121982	73121982	NM_018344.5:c.1045delC	NP_060814.4:p.Leu349Serfs	NC_000010.10:g.73121982delC	OMIM Allelic Variant:612373.0003,SLC29A3 @ LOVD:SLC29A3_00003	C1864445 602782 Histiocytosis-lymphadenopathy plus syndrome
NM_018344.5(SLC29A3):c.1087C>T (p.Arg363Trp)	55315	SLC29A3	Pathogenic	387907067	RCV000023939;	N	MedGen:C1864445,OMIM:602782	10	73122024	73122024	NM_018344.5:c.1087C>T	NP_060814.4:p.Arg363Trp	NC_000010.10:g.73122024C>T	OMIM Allelic Variant:612373.0011	C1864445 602782 Histiocytosis-lymphadenopathy plus syndrome
NM_018344.5(SLC29A3):c.1088G>A (p.Arg363Gln)	55315	SLC29A3	Pathogenic	387907066	RCV000023938;	N	MedGen:C1864445,OMIM:602782	10	73122025	73122025	NM_018344.5:c.1088G>A	NP_060814.4:p.Arg363Gln	NC_000010.10:g.73122025G>A	OMIM Allelic Variant:612373.0010	C1864445 602782 Histiocytosis-lymphadenopathy plus syndrome
NM_018344.5(SLC29A3):c.1157G>A (p.Arg386Gln)	55315	SLC29A3	Pathogenic	397515429	RCV000033097;	N	MedGen:C1864445,OMIM:602782	10	73122094	73122094	NM_018344.5:c.1157G>A	NP_060814.4:p.Arg386Gln	NC_000010.10:g.73122094G>A	OMIM Allelic Variant:612373.0013	C1864445 602782 Histiocytosis-lymphadenopathy plus syndrome
NM_018344.5(SLC29A3):c.1228C>T (p.Gln410Ter)	55315	SLC29A3	Pathogenic	587780462	RCV000118376;	N	MedGen:C1864445,OMIM:602782	10	73122165	73122165	NM_018344.5:c.1228C>T	NP_060814.4:p.Gln410Ter	NC_000010.10:g.73122165C>T	-	C1864445 602782 Histiocytosis-lymphadenopathy plus syndrome
NM_018344.5(SLC29A3):c.1279G>A (p.Gly427Ser)	55315	SLC29A3	Pathogenic	121912583	RCV000000593;	N	MedGen:C1864445,OMIM:602782	10	73122216	73122216	NM_018344.5:c.1279G>A	NP_060814.4:p.Gly427Ser	NC_000010.10:g.73122216G>A	OMIM Allelic Variant:612373.0001	C1864445 602782 Histiocytosis-lymphadenopathy plus syndrome
NM_018344.5(SLC29A3):c.1309G>A (p.Gly437Arg)	55315	SLC29A3	Pathogenic	121912584	RCV000000595;	N	MedGen:C1864445,OMIM:602782	10	73122246	73122246	NM_018344.5:c.1309G>A	NP_060814.4:p.Gly437Arg	NC_000010.10:g.73122246G>A	OMIM Allelic Variant:612373.0002	C1864445 602782 Histiocytosis-lymphadenopathy plus syndrome
NM_018344.5(SLC29A3):c.1330G>T (p.Glu444Ter)	55315	SLC29A3	Pathogenic	267607056	RCV000000594;	N	MedGen:C1864445,OMIM:602782	10	73122267	73122267	NM_018344.5:c.1330G>T	NP_060814.4:p.Glu444Ter	NC_000010.10:g.73122267G>T	OMIM Allelic Variant:612373.0004	C1864445 602782 Histiocytosis-lymphadenopathy plus syndrome
NM_018344.5(SLC29A3):c.1346C>G (p.Thr449Arg)	55315	SLC29A3	Pathogenic	267607058	RCV000000599;	N	MedGen:C1864445,OMIM:602782	10	73122283	73122283	NM_018344.5:c.1346C>G	NP_060814.4:p.Thr449Arg	NC_000010.10:g.73122283C>G	OMIM Allelic Variant:612373.0007	C1864445 602782 Histiocytosis-lymphadenopathy plus syndrome