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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: Death, Sudden (D003645)
Parent Node: Facies (D019066)
Parent Node: Fever (D005334)
Parent Node: Hand Deformities, Congenital (D006228)
Parent Node: Trismus (D014313)
..Starting node ..Crisponi syndrome (C536214)
Child Nodes:
Sister Nodes:
..Crisponi syndrome (C536214)
..Hecht syndrome (C535857)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2859

Name:

Crisponi syndrome

Definition:

Alternative IDs:

OMIM:272430

ParentIDs:

MESH:D003645|MESH:D005334|MESH:D006228|MESH:D014313|MESH:D019066

TreeNumbers:

C05.390.408/C536214 |C05.660.585.988.425/C536214 |C10.597.613.750.700/C536214 |C16.131.621.585.425/C536214 |C23.550.260.322/C536214 |C23.550.291.812/C536214 |C23.888.119.344/C536214 |C23.888.592.608.750.700/C536214

Synonyms:

Slim Mappings:

Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms

Reference:

MedGen: C536214
MeSH: C536214
OMIM: 272430;

Genes: CRLF1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001181	Adducted thumb
3	HP:0000463	Anteverted nares
4	HP:0012385	Camptodactyly
5	HP:0000670	Carious teeth
6	HP:0005280	Depressed nasal bridge
7	HP:0002094	Dyspnea
8	HP:0002987	Elbow flexion contracture
9	HP:0010628	Facial palsy
10	HP:0008872	Feeding difficulties in infancy
11	HP:0000293	Full cheeks
12	HP:0000218	High palate
13	HP:0000975	Hyperhidrosis
14	HP:0001249	Intellectual disability	HP:0040283
15	HP:0002751	Kyphoscoliosis
16	HP:0100729	Large face
17	HP:0001377	Limited elbow extension
18	HP:0000343	Long philtrum
19	HP:0000369	Low-set ears
20	HP:0000347	Micrognathia
21	HP:0000160	Narrow mouth
22	HP:0001611	Nasal speech
23	HP:0002179	Opisthotonus
24	HP:0001763	Pes planus
25	HP:0009466	Radial deviation of finger
26	HP:0001954	Recurrent fever
27	HP:0000278	Retrognathia
28	HP:0001250	Seizure	HP:0040283
29	HP:0000470	Short neck
30	HP:0004279	Short palm
31	HP:0001762	Talipes equinovarus
32	HP:0001182	Tapered finger
33	HP:0000445	Wide nose

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_004750.4(CRLF1):c.1121T>G (p.Leu374Arg)	9244	CRLF1	Pathogenic	104894668	RCV000006060; RCV000020613;	N	MedGen:C1848947,OMIM:272430	19	18705148	18705148	NM_004750.4:c.1121T>G	NP_004741.1:p.Leu374Arg	NC_000019.9:g.18705148A>C	OMIM Allelic Variant:604237.0002	C1848947 272430 Cold-induced sweating syndrome 1
NM_004750.4(CRLF1):c.1121T>G (p.Leu374Arg)	9244	CRLF1	Pathogenic	104894668	RCV000006060; RCV000020613;	N	MedGen:C1848947,OMIM:272430	19	18705148	18705148	NM_004750.4:c.1121T>G	NP_004741.1:p.Leu374Arg	NC_000019.9:g.18705148A>C	OMIM Allelic Variant:604237.0002	C1848947 272430 Cold-induced sweating syndrome 1
NM_004750.4(CRLF1):c.1102A>T (p.Lys368Ter)	9244	CRLF1	Pathogenic	137853144	RCV000006065;	N	MedGen:C1848947,OMIM:272430	19	18705167	18705167	NM_004750.4:c.1102A>T	NP_004741.1:p.Lys368Ter	NC_000019.9:g.18705167T>A	OMIM Allelic Variant:604237.0007	C1848947 272430 Cold-induced sweating syndrome 1
NM_004750.4(CRLF1):c.935G>A (p.Arg312His)	9244	CRLF1	Pathogenic	137853933	RCV000020622;	N	MedGen:C1848947,OMIM:272430	19	18707521	18707521	NM_004750.4:c.935G>A	NP_004741.1:p.Arg312His	NC_000019.9:g.18707521C>T	-	C1848947 272430 Cold-induced sweating syndrome 1
NM_004750.4(CRLF1):c.857_864delTGGTGGAC (p.Val286Glyfs)	9244	CRLF1	Pathogenic	367543004	RCV000020063;	N	MedGen:C1848947,OMIM:272430	19	18707592	18707599	NM_004750.4:c.857_864delTGGTGGAC	NP_004741.1:p.Val286Glyfs	NC_000019.9:g.18707592_18707599delGTCCACCA	dbVar:nssv3761559,dbVar:nsv1067880	C1848947 272430 Cold-induced sweating syndrome 1
NM_004750.4(CRLF1):c.852G>T (p.Trp284Cys)	9244	CRLF1	Pathogenic	137853927	RCV000020621;	N	MedGen:C1848947,OMIM:272430	19	18707705	18707705	NM_004750.4:c.852G>T	NP_004741.1:p.Trp284Cys	NC_000019.9:g.18707705C>A	-	C1848947 272430 Cold-induced sweating syndrome 1
NM_004750.4(CRLF1):c.845_846delTG (p.Val282GlyfsTer47)	9244	CRLF1	Pathogenic	137853928	RCV000210224;	N	MedGen:C1848947,OMIM:272430	19	18707711	18707712	NM_004750.4:c.845_846delTG	NP_004741.1:p.Val282GlyfsTer47	NC_000019.9:g.18707711_18707712delCA	OMIM Allelic Variant:604237.0001	C1848947 272430 Cold-induced sweating syndrome 1
NM_004750.4(CRLF1):c.829C>T (p.Arg277Ter)	9244	CRLF1	Pathogenic	137853145	RCV000006067;	N	MedGen:C1848947,OMIM:272430	19	18707728	18707728	NM_004750.4:c.829C>T	NP_004741.1:p.Arg277Ter	NC_000019.9:g.18707728G>A	OMIM Allelic Variant:604237.0009	C1848947 272430 Cold-induced sweating syndrome 1
NM_004750.4(CRLF1):c.713dupC (p.Pro239Alafs)	9244	CRLF1	Pathogenic	768727082	RCV000195773;	N	MedGen:C1848947,OMIM:272430	19	18707844	18707844	NM_004750.4:c.713dupC	NP_004741.1:p.Pro239Alafs	NC_000019.9:g.18707844dupG	-	C1848947 272430 Cold-induced sweating syndrome 1
NM_004750.4(CRLF1):c.538C>T (p.Gln180Ter)	9244	CRLF1	Pathogenic	137853926	RCV000020619;	N	MedGen:C1848947,OMIM:272430	19	18709401	18709401	NM_004750.4:c.538C>T	NP_004741.1:p.Gln180Ter	NC_000019.9:g.18709401G>A	-	C1848947 272430 Cold-induced sweating syndrome 1
NM_004750.4(CRLF1):c.413C>T (p.Pro138Leu)	9244	CRLF1	Pathogenic	137853930	RCV000020618;	N	MedGen:C1848947,OMIM:272430	19	18709696	18709696	NM_004750.4:c.413C>T	NP_004741.1:p.Pro138Leu	NC_000019.9:g.18709696G>A	-	C1848947 272430 Cold-induced sweating syndrome 1
NM_004750.4(CRLF1):c.397+1G>A	9244	CRLF1	Pathogenic	137853932	RCV000020617;	N	MedGen:C1848947,OMIM:272430	19	18710374	18710374	NM_004750.4:c.397+1G>A		NC_000019.9:g.18710374C>T	-	C1848947 272430 Cold-induced sweating syndrome 1
NM_004750.4(CRLF1):c.303delC (p.Asn102Thrfs)	9244	CRLF1	Pathogenic	137853931	RCV000020615;	N	MedGen:C1848947,OMIM:272430	19	18710469	18710469	NM_004750.4:c.303delC	NP_004741.1:p.Asn102Thrfs	NC_000019.9:g.18710469delG	-	C1848947 272430 Cold-induced sweating syndrome 1
NM_004750.4(CRLF1):c.242G>A (p.Arg81His)	9244	CRLF1	Benign;Pathogenic	104894670	RCV000006060; RCV000020614;	N	MedGen:C1848947,OMIM:272430	19	18710530	18710530	NM_004750.4:c.242G>A	NP_004741.1:p.Arg81His	NC_000019.9:g.18710530C>T	OMIM Allelic Variant:604237.0002	C1848947 272430 Cold-induced sweating syndrome 1
NM_004750.4(CRLF1):c.242G>A (p.Arg81His)	9244	CRLF1	Benign;Pathogenic	104894670	RCV000006060; RCV000020614;	N	MedGen:C1848947,OMIM:272430	19	18710530	18710530	NM_004750.4:c.242G>A	NP_004741.1:p.Arg81His	NC_000019.9:g.18710530C>T	OMIM Allelic Variant:604237.0002	C1848947 272430 Cold-induced sweating syndrome 1
NM_004750.4(CRLF1):c.226T>G (p.Trp76Gly)	9244	CRLF1	Pathogenic	137853143	RCV000006062;	N	MedGen:C1848947,OMIM:272430	19	18710546	18710546	NM_004750.4:c.226T>G	NP_004741.1:p.Trp76Gly	NC_000019.9:g.18710546A>C	OMIM Allelic Variant:604237.0004	C1848947 272430 Cold-induced sweating syndrome 1
NM_004750.4(CRLF1):c.75_77delGCT (p.Leu26del)	9244	CRLF1	Benign	34503316	RCV000020620;	N	MedGen:C1848947,OMIM:272430	19	18717390	18717392	NM_004750.4:c.75_77delGCT	NP_004741.1:p.Leu26del	NC_000019.9:g.18717390_18717392delAGC	-	C1848947 272430 Cold-induced sweating syndrome 1
NM_004750.4(CRLF1):c.31_53del23 (p.Gln11Valfs)	9244	CRLF1	Pathogenic	137853929	RCV000020616;	N	MedGen:C1848947,OMIM:272430	19	18717414	18717436	NM_004750.4:c.31_53del23	NP_004741.1:p.Gln11Valfs	NC_000019.9:g.18717414_18717436del23	-	C1848947 272430 Cold-induced sweating syndrome 1