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	17q21.31 microdeletion syndrome

Disease ID	1279
Disease	17q21.31 microdeletion syndrome
Definition	A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and friendly/amiable behavior. Abnormal hair pigmentation and texture is also frequent. Short stature, pectus excavatum, spine anomalies, dislocation of the hip, long slender fingers and slender lower limbs, and positional deformities of the hands/feet have also been reported. In all patients, global psychomotor developmental delay is noted from an early age. The recurrent 17q21.31 deletion encompasses at least six genes: C17orf69, CRHR1, IMP5, MAPT, STH and KIAA1267.
Synonym	17q21.31 deletion syndrome chromosome 17q21.31 deletion syndrome chromosome 17q21.31 microdeletion syndrome kdvs koolen de vries syndrome koolen de vries syndrome (disorder) koolen syndrome koolen-de vries syndrome microdeletion 17q21.31 syndrome monosomy 17q21.31
Orphanet	ORPHANET:363958 ORPHANET:96169
OMIM	OMIM:610443
DOID	DOID:0050880
UMLS	C1864871
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 284058 \| KANSL1 \| CLINVAR;GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:39) 71 \| ACTG1 \| 2.431 \| DISEASES 1394 \| CRHR1 \| 3.84 \| DISEASES 147081 \| CRHR1-IT1 \| 5.1 \| DISEASES 1399 \| CRKL \| 2.104 \| DISEASES 57459 \| GATAD2B \| 4.092 \| DISEASES 2925 \| GRPR \| 1.981 \| DISEASES 2932 \| GSK3B \| 1.207 \| DISEASES 8359 \| HIST1H4A \| 1.809 \| DISEASES 8366 \| HIST1H4B \| 1.809 \| DISEASES 8364 \| HIST1H4C \| 1.809 \| DISEASES 8360 \| HIST1H4D \| 1.808 \| DISEASES 8367 \| HIST1H4E \| 1.809 \| DISEASES 8361 \| HIST1H4F \| 1.809 \| DISEASES 8294 \| HIST1H4I \| 1.809 \| DISEASES 8363 \| HIST1H4J \| 1.809 \| DISEASES 8362 \| HIST1H4K \| 1.809 \| DISEASES 8368 \| HIST1H4L \| 1.809 \| DISEASES 8370 \| HIST2H4A \| 1.809 \| DISEASES 554313 \| HIST2H4B \| 1.809 \| DISEASES 121504 \| HIST4H4 \| 1.809 \| DISEASES 84148 \| KAT8 \| 3.543 \| DISEASES 222662 \| LHFPL5 \| 3.526 \| DISEASES 9884 \| LRRC37A \| 4.234 \| DISEASES 374819 \| LRRC37A3 \| 4.303 \| DISEASES 4137 \| MAPT \| 3.523 \| DISEASES 100128977 \| MAPT-AS1 \| 4.804 \| DISEASES 100130148 \| MAPT-IT1 \| 5.1 \| DISEASES 254827 \| NAALADL2 \| 3.999 \| DISEASES 4828 \| NMB \| 2.749 \| DISEASES 54681 \| P4HTM \| 2.802 \| DISEASES 5089 \| PBX2 \| 3.109 \| DISEASES 5781 \| PTPN11 \| 1.053 \| DISEASES 6238 \| RRBP1 \| 2.566 \| DISEASES 10019 \| SH2B3 \| 2.391 \| DISEASES 162540 \| SPPL2C \| 4.361 \| DISEASES 246744 \| STH \| 3.887 \| DISEASES 4070 \| TACSTD2 \| 2.18 \| DISEASES 51347 \| TAOK3 \| 3.641 \| DISEASES 6899 \| TBX1 \| 2.643 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) KANSL1 \| 17q21.31

Disease ID	1279
Disease	17q21.31 microdeletion syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0005160 \| Total anomalous pulmonary venous return \| 1

Disease ID	1279
Disease	17q21.31 microdeletion syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:7)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs281865468	NA	284058	KANSL1	umls:C1864871	CLINVAR	NA	0.121085767	NA	KANSL1;LOC105376838	17	46171228	G	A
rs281865469	NA	284058	KANSL1	umls:C1864871	CLINVAR	NA	0.121085767	NA	KANSL1	17	46066569	G	C,A
rs281865470	NA	284058	KANSL1	umls:C1864871	CLINVAR	NA	0.121085767	NA	KANSL1	17	46067548	C	T
rs281865471	NA	284058	KANSL1	umls:C1864871	CLINVAR	NA	0.121085767	NA	KANSL1;LOC102724391	17	46033131	CT	-
rs281865472	NA	284058	KANSL1	umls:C1864871	CLINVAR	NA	0.121085767	NA	KANSL1	17	46050683	GGAT	-
rs281865473	NA	284058	KANSL1	umls:C1864871	CLINVAR	NA	0.121085767	NA	KANSL1;LOC105376838	17	46171158	AA	-
rs797045049	NA	284058	KANSL1	umls:C1864871	CLINVAR	NA	0.121085767	NA	KANSL1	17	46031669	A	-

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	1279
Disease	17q21.31 microdeletion syndrome
Case	(Waiting for update.)

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