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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

Disease Browser
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Intestinal Pseudo-Obstruction (D007418)
..Starting node ..Congenital idiopathic intestinal pseudoobstruction (C535532)
Child Nodes:
Sister Nodes:
..Colonic Pseudo-Obstruction (D003112)
..Congenital idiopathic intestinal pseudoobstruction (C535532)
..Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction (C564408)
..Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth (C538341)
..Megacystis microcolon intestinal hypoperistalsis syndrome (C536138) 1
..Megaduodenum and/or Megacystis (C563597)
..Mitochondrial neurogastrointestinal encephalopathy syndrome (C537477) 2
..Mungan Syndrome (C548078)
..Visceral myopathy familial external ophthalmoplegia (C536350)
..Visceral Myopathy, Familial (C562574) 1
..Visceral Neuropathy, Familial, Autosomal Dominant (C566502)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2654

Name:

Congenital idiopathic intestinal pseudoobstruction

Definition:

Alternative IDs:

OMIM:300048

ParentIDs:

MESH:D007418|MESH:D040181

TreeNumbers:

C06.405.469.531.492.500/C535532 |C16.320.322/C535532

Synonyms:

Slim Mappings:

Digestive system disease|Genetic disease (inborn)

Reference:

MedGen: C535532
MeSH: C535532
OMIM: 300048;

Genes: FLNA;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0003270	Abdominal distention
4	HP:0001999	Abnormal facial shape
5	HP:0030889	Congenital shortened small intestine	HP:0040283
6	HP:0000494	Downslanted palpebral fissures
7	HP:0008872	Feeding difficulties in infancy
8	HP:0000126	Hydronephrosis	HP:0040283
9	HP:0000316	Hypertelorism
10	HP:0011877	Increased mean platelet volume
11	HP:0040309	Increased size of the mandible
12	HP:0002566	Intestinal malrotation
13	HP:0004389	Intestinal pseudo-obstruction
14	HP:0000369	Low-set ears
15	HP:0001643	Patent ductus arteriosus
16	HP:0002021	Pyloric stenosis	HP:0040283
17	HP:0001250	Seizure	HP:0040283
18	HP:0000319	Smooth philtrum
19	HP:0001264	Spastic diplegia	HP:0040283
20	HP:0001873	Thrombocytopenia
21	HP:0002013	Vomiting

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	Disease_hgmd
NM_001110556.1(FLNA):c.65_66delAC (p.Thr23Alafs)	2316	FLNA	Pathogenic	80338840	RCV000012537;	N	Gene:8268,MedGen:C1848221,OMIM:300048	X	153599548	153599549	NM_001110556.1:c.65_66delAC	NP_001104026.1:p.Thr23Alafs	NC_000023.10:g.153599548_153599549delGT	OMIM Allelic Variant:300017.0025	C1848221 300048 Intestinal pseudoobstruction neuronal chronic idiopathic X-linked