MCID: ASR001
MIFTS: 14

Asrar Facharzt Haque Syndrome

Categories: Rare diseases

Aliases & Classifications for Asrar Facharzt Haque Syndrome

MalaCards integrated aliases for Asrar Facharzt Haque Syndrome:

Name: Asrar Facharzt Haque Syndrome 20 6 71

Classifications:



External Ids:

UMLS 71 C2930890

Summaries for Asrar Facharzt Haque Syndrome

MalaCards based summary : Asrar Facharzt Haque Syndrome and has symptoms including hoarseness An important gene associated with Asrar Facharzt Haque Syndrome is SLC29A3 (Solute Carrier Family 29 Member 3).

Related Diseases for Asrar Facharzt Haque Syndrome

Symptoms & Phenotypes for Asrar Facharzt Haque Syndrome

UMLS symptoms related to Asrar Facharzt Haque Syndrome:


hoarseness

Drugs & Therapeutics for Asrar Facharzt Haque Syndrome

Search Clinical Trials , NIH Clinical Center for Asrar Facharzt Haque Syndrome

Genetic Tests for Asrar Facharzt Haque Syndrome

Anatomical Context for Asrar Facharzt Haque Syndrome

Publications for Asrar Facharzt Haque Syndrome

Articles related to Asrar Facharzt Haque Syndrome:

(show all 19)
# Title Authors PMID Year
1
Mutation in the SLC29A3 gene: a new cause of a monogenic, autoinflammatory condition. 6
23530176 2013
2
Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis. 6
22875837 2012
3
Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype. 6
21888995 2012
4
A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant. 6
22238637 2012
5
Identification of two novel mutations in SLC29A3 encoding an equilibrative nucleoside transporter (hENT3) in two distinct Syrian families with H syndrome: expression studies of SLC29A3 (hENT3) in human skin. 6
22653152 2012
6
A case of H syndrome showing immunophenotye similarities to Rosai-Dorfman disease. 6
21178579 2011
7
Expanding the clinical spectrum of SLC29A3 gene defects. 6
20619369 2010
8
Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability. 6
20595384 2010
9
Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease. 6
20140240 2010
10
The H syndrome: two novel mutations affecting the same amino acid residue of hENT3. 6
19889517 2010
11
SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway. 6
19336477 2009
12
Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndrome. 6
19175903 2009
13
Rhinoscleroma: a French national retrospective study of epidemiological and clinical features. 6
18947330 2008
14
The H syndrome is caused by mutations in the nucleoside transporter hENT3. 6
18940313 2008
15
Pigmented hypertrichotic dermatosis and insulin dependent diabetes: manifestations of a unique genetic disorder? 6
17461801 2007
16
Faisalabad histiocytosis mimics Rosai-Dorfman disease: brothers with lymphadenopathy, intrauterine fractures, short stature, and sensorineural deafness. 6
16155931 2006
17
POEMS in childhood. 6
16650224 2006
18
Sinus histiocytosis with massive lymphadenopathy in three brothers. 6
16118898 2005
19
Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness. 6
9545394 1998

Variations for Asrar Facharzt Haque Syndrome

ClinVar genetic disease variations for Asrar Facharzt Haque Syndrome:

6 (show top 50) (show all 154)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC29A3 NM_018344.6(SLC29A3):c.1309G>A (p.Gly437Arg) SNV Pathogenic 565 rs121912584 10:73122246-73122246 10:71362489-71362489
2 SLC29A3 NM_018344.6(SLC29A3):c.1045del (p.Leu349fs) Deletion Pathogenic 566 rs869025176 10:73121978-73121978 10:71362221-71362221
3 SLC29A3 NM_018344.6(SLC29A3):c.940del (p.Tyr314fs) Deletion Pathogenic 567 rs869025177 10:73121877-73121877 10:71362120-71362120
4 SLC29A3 NM_018344.6(SLC29A3):c.347T>G (p.Met116Arg) SNV Pathogenic 568 rs267607057 10:73104012-73104012 10:71344255-71344255
5 SLC29A3 NM_018344.6(SLC29A3):c.1346C>G (p.Thr449Arg) SNV Pathogenic 569 rs267607058 10:73122283-73122283 10:71362526-71362526
6 SLC29A3 SLC29A3, IVS2, G-A, +1 SNV Pathogenic 30946
7 SLC29A3 NM_018344.6(SLC29A3):c.1088G>A (p.Arg363Gln) SNV Pathogenic 30948 rs387907066 10:73122025-73122025 10:71362268-71362268
8 SLC29A3 NM_018344.6(SLC29A3):c.1087C>T (p.Arg363Trp) SNV Pathogenic 30949 rs387907067 10:73122024-73122024 10:71362267-71362267
9 SLC29A3 NM_018344.6(SLC29A3):c.243del (p.Lys81fs) Deletion Pathogenic 636986 rs1589220231 10:73082752-73082752 10:71322995-71322995
10 SLC29A3 NM_018344.6(SLC29A3):c.1157G>A (p.Arg386Gln) SNV Pathogenic 39870 rs397515429 10:73122094-73122094 10:71362337-71362337
11 SLC29A3 NM_018344.6(SLC29A3):c.607T>C (p.Ser203Pro) SNV Pathogenic 39871 rs397514626 10:73111542-73111542 10:71351785-71351785
12 SLC29A3 NM_018344.6(SLC29A3):c.1228C>T (p.Gln410Ter) SNV Pathogenic 130338 rs587780462 10:73122165-73122165 10:71362408-71362408
13 SLC29A3 NM_018344.6(SLC29A3):c.300+1G>A SNV Pathogenic 130339 rs587780463 10:73082812-73082812 10:71323055-71323055
14 SLC29A3 NM_018344.6(SLC29A3):c.73C>T (p.Arg25Ter) SNV Pathogenic 212200 rs746408350 10:73082584-73082584 10:71322827-71322827
15 SLC29A3 NM_018344.6(SLC29A3):c.1279G>A (p.Gly427Ser) SNV Pathogenic 563 rs121912583 10:73122216-73122216 10:71362459-71362459
16 SLC29A3 NM_018344.6(SLC29A3):c.479G>A (p.Trp160Ter) SNV Pathogenic 573984 rs776960135 10:73111414-73111414 10:71351657-71351657
17 SLC29A3 NM_018344.6(SLC29A3):c.139G>T (p.Glu47Ter) SNV Pathogenic 862781 10:73082650-73082650 10:71322893-71322893
18 SLC29A3 NM_018344.6(SLC29A3):c.122del (p.Pro41fs) Deletion Pathogenic 915355 10:73082629-73082629 10:71322872-71322872
19 SLC29A3 NM_018344.6(SLC29A3):c.308_309del (p.Tyr102_Phe103insTer) Deletion Pathogenic 30947 rs796052139 10:73103972-73103973 10:71344215-71344216
20 SLC29A3 NM_018344.6(SLC29A3):c.971C>T (p.Pro324Leu) SNV Likely pathogenic 963811 10:73121908-73121908 10:71362151-71362151
21 SLC29A3 NM_018344.6(SLC29A3):c.984del (p.Asn329fs) Deletion Likely pathogenic 664261 rs1415833135 10:73121920-73121920 10:71362163-71362163
22 SLC29A3 NM_018344.6(SLC29A3):c.611-1G>T SNV Likely pathogenic 659679 rs139857136 10:73115837-73115837 10:71356080-71356080
23 SLC29A3 NM_018344.6(SLC29A3):c.1330G>T (p.Glu444Ter) SNV Likely pathogenic 564 rs267607056 10:73122267-73122267 10:71362510-71362510
24 SLC29A3 NM_018344.6(SLC29A3):c.855G>A (p.Ser285=) SNV Conflicting interpretations of pathogenicity 300365 rs566110994 10:73121792-73121792 10:71362035-71362035
25 SLC29A3 NM_018344.6(SLC29A3):c.987C>T (p.Asn329=) SNV Conflicting interpretations of pathogenicity 709157 rs147814367 10:73121924-73121924 10:71362167-71362167
26 SLC29A3 NM_018344.6(SLC29A3):c.1347G>A (p.Thr449=) SNV Conflicting interpretations of pathogenicity 795626 rs373404056 10:73122284-73122284 10:71362527-71362527
27 SLC29A3 NM_018344.6(SLC29A3):c.714_715inv (p.Val239Ile) Inversion Conflicting interpretations of pathogenicity 300363 10:73115941-73115942 10:71356184-71356185
28 SLC29A3 NM_018344.6(SLC29A3):c.365A>G (p.Asn122Ser) SNV Uncertain significance 595707 rs772599816 10:73104030-73104030 10:71344273-71344273
29 SLC29A3 NM_018344.6(SLC29A3):c.325G>A (p.Val109Ile) SNV Uncertain significance 287017 rs138640615 10:73103990-73103990 10:71344233-71344233
30 SLC29A3 NM_018344.6(SLC29A3):c.225G>A (p.Lys75=) SNV Uncertain significance 967525 10:73082736-73082736 10:71322979-71322979
31 SLC29A3 NM_018344.6(SLC29A3):c.1133C>T (p.Ala378Val) SNV Uncertain significance 967893 10:73122070-73122070 10:71362313-71362313
32 SLC29A3 NM_018344.6(SLC29A3):c.874G>C (p.Asp292His) SNV Uncertain significance 969066 10:73121811-73121811 10:71362054-71362054
33 SLC29A3 NM_018344.6(SLC29A3):c.18G>A (p.Glu6=) SNV Uncertain significance 972053 10:73082529-73082529 10:71322772-71322772
34 SLC29A3 NM_018344.6(SLC29A3):c.804T>C (p.His268=) SNV Uncertain significance 750645 rs896755457 10:73121741-73121741 10:71361984-71361984
35 SLC29A3 NM_018344.6(SLC29A3):c.*744G>A SNV Uncertain significance 877281 10:73123109-73123109 10:71363352-71363352
36 SLC29A3 NM_018344.6(SLC29A3):c.138C>T (p.Pro46=) SNV Uncertain significance 878196 10:73082649-73082649 10:71322892-71322892
37 SLC29A3 NM_018344.6(SLC29A3):c.219T>C (p.Thr73=) SNV Uncertain significance 878197 10:73082730-73082730 10:71322973-71322973
38 SLC29A3 NM_018344.6(SLC29A3):c.303_320dup (p.Tyr102_Leu107dup) Duplication Uncertain significance 934211 10:73103967-73103968 10:71344210-71344211
39 SLC29A3 NM_018344.6(SLC29A3):c.59C>G (p.Thr20Arg) SNV Uncertain significance 937842 10:73082570-73082570 10:71322813-71322813
40 SLC29A3 NM_018344.6(SLC29A3):c.116C>T (p.Pro39Leu) SNV Uncertain significance 938915 10:73082627-73082627 10:71322870-71322870
41 SLC29A3 NM_018344.6(SLC29A3):c.145C>T (p.Arg49Cys) SNV Uncertain significance 940035 10:73082656-73082656 10:71322899-71322899
42 SLC29A3 NM_018344.6(SLC29A3):c.300+5G>A SNV Uncertain significance 943971 10:73082816-73082816 10:71323059-71323059
43 SLC29A3 NM_018344.6(SLC29A3):c.770C>T (p.Ala257Val) SNV Uncertain significance 950014 10:73115997-73115997 10:71356240-71356240
44 SLC29A3 NM_018344.6(SLC29A3):c.605T>C (p.Ile202Thr) SNV Uncertain significance 953136 10:73111540-73111540 10:71351783-71351783
45 SLC29A3 NM_018344.6(SLC29A3):c.1017A>G (p.Ser339=) SNV Uncertain significance 878860 10:73121954-73121954 10:71362197-71362197
46 SLC29A3 NM_018344.6(SLC29A3):c.530G>A (p.Gly177Asp) SNV Uncertain significance 880015 10:73111465-73111465 10:71351708-71351708
47 SLC29A3 NM_018344.6(SLC29A3):c.624C>T (p.Gly208=) SNV Uncertain significance 880016 10:73115851-73115851 10:71356094-71356094
48 SLC29A3 NM_018344.6(SLC29A3):c.*111A>G SNV Uncertain significance 880067 10:73122476-73122476 10:71362719-71362719
49 SLC29A3 NM_018344.6(SLC29A3):c.*220A>G SNV Uncertain significance 880068 10:73122585-73122585 10:71362828-71362828
50 SLC29A3 NM_018344.6(SLC29A3):c.*321C>G SNV Uncertain significance 880069 10:73122686-73122686 10:71362929-71362929

Expression for Asrar Facharzt Haque Syndrome

Search GEO for disease gene expression data for Asrar Facharzt Haque Syndrome.

Pathways for Asrar Facharzt Haque Syndrome

GO Terms for Asrar Facharzt Haque Syndrome

Sources for Asrar Facharzt Haque Syndrome

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30 HMDB
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45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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