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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

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: Basal Ganglia Diseases (D001480)
Parent Node: Dandy-Walker Syndrome (D003616)
Parent Node: Mental Retardation, X-Linked (D038901)
Parent Node: Seizures (D012640)
..Starting node ..Mental retardation, X-linked, syndromic 5 (C535773)
Child Nodes:
Sister Nodes:
..Adams Nance syndrome (C538224)
..Alcohol Withdrawal Seizures (D020270)
..Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism (C563370)
..Baraitser Rodeck Garner syndrome (C537906)
..Cerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..Chromosome 15q13.3 Microdeletion Syndrome (C567439)
..Convulsive Disorder, Familial, with Prenatal or Early Onset (C565678)
..Copper deficiency, familial benign (C535468)
..Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (C563840)
..Dysmyelination With Jaundice (C565610)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 (OMIM:613721)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 (OMIM:613722)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 (OMIM:613477)
..EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 (OMIM:613720)
..Hyper-Beta-Alaninemia (C562684)
..Hyperleucine-Isoleucinemia (C562674)
..Hyperphosphatemia, Polyuria, and Seizures (C565494)
..Hypoparathyroidism-retardation-dysmorphism syndrome (C537157)
..Hypotonia, Seizures, And Precocious Puberty (C567566)
..Infantile convulsions and paroxysmal choreoathetosis, familial (C535522)
..Mental retardation, keratoconus, febrile seizures, and sinoatrial block (C537452)
..Mental retardation, X-linked, syndromic 5 (C535773)
..Methionine Malabsorption Syndrome (C562682)
..Microcephaly seizures genital hypoplasia (C537540)
..Microcephaly seizures mental retardation heart disorders (C537544)
..Microcephaly sparse hair mental retardation seizures (C537545)
..MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
..MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
..Muller Barth Menger syndrome (C537370)
..PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS (OMIM:600176)
..Partington X-linked mental retardation syndrome (C536300)
..Perniola Krajewska Carnevale syndrome (C536660)
..Phosphoglycerate Dehydrogenase Deficiency (C566618)
..Phosphoserine Aminotransferase Deficiency (C567032)
..Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency (C566449)
..Qazi Markouizos syndrome (C536259)
..SeSAME syndrome (C557674)
..Tranebjaerg Svejgaard syndrome (C536978)
..Warman Mulliken Hayward syndrome (C536684)
..X-linked mental retardation Gustavson type (C536759)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7059

Name:

Mental retardation, X-linked, syndromic 5

Definition:

Alternative IDs:

OMIM:304340

ParentIDs:

MESH:D001480|MESH:D003616|MESH:D012640|MESH:D038901

TreeNumbers:

C10.228.140.079/C535773 |C10.228.140.252.300/C535773 |C10.228.140.490.631/C535773 |C10.228.140.602.288/C535773 |C10.228.140.631.450.500/C535773 |C10.500.205/C535773 |C10.597.606.643.455/C535773 |C10.597.742/C535773 |C16.131.666.205/C535773 |C16.320.322.500/C53577

Synonyms:

Dandy-Walker malformation with mental retardation, basal ganglia disease, and seizures |MENTAL RETARDATION, X-LINKED 59 |MENTAL RETARDATION, X-LINKED, SYNDROMIC 21 |MENTAL RETARDATION, X-LINKED, SYNDROMIC, FRIED TYPE |Mental retardation, X-linked, with Dandy

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Signs and symptoms

Reference:

MedGen: C535773
MeSH: C535773
OMIM: 304340;

Genes: AP1S2;

Phenotypes

1	HP:0001417	X-linked inheritance
2	HP:0001419	X-linked recessive inheritance
3	HP:0003593	Infantile onset
4	HP:0002134	Abnormality of the basal ganglia
5	HP:0002514	Cerebral calcification	HP:0040283
6	HP:0001266	Choreoathetosis
7	HP:0000280	Coarse facial features
8	HP:0001305	Dandy-Walker malformation	HP:0040283
9	HP:0000490	Deeply set eye
10	HP:0001371	Flexion contracture
11	HP:0002066	Gait ataxia
12	HP:0001290	Generalized hypotonia
13	HP:0001263	Global developmental delay
14	HP:0005101	High-frequency hearing impairment
15	HP:0000238	Hydrocephalus	HP:0040283
16	HP:0001347	Hyperreflexia
17	HP:0010864	Intellectual disability, severe
18	HP:0000276	Long face
19	HP:0000303	Mandibular prognathia
20	HP:0011220	Prominent forehead
21	HP:0000448	Prominent nose
22	HP:0002650	Scoliosis
23	HP:0001250	Seizure
24	HP:0100716	Self-injurious behavior
25	HP:0000407	Sensorineural hearing impairment
26	HP:0001257	Spasticity
27	HP:0012471	Thick vermilion border
28	HP:0000154	Wide mouth

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_003916.4(AP1S2):c.426+1G>T	8905	AP1S2	Pathogenic	587777542	RCV000128636;	N	MedGen:C0796254,OMIM:304340,ORPHA:1568	X	15863501	15863501	NM_003916.4:c.426+1G>T		X:g.15863501C>A	OMIM Allelic Variant:300629.0006	C0796254 304340 Mental retardation X-linked syndromic 5
NM_003916.4(AP1S2):c.288+5G>A	8905	AP1S2	Pathogenic	587776739	RCV000011527;	N	MedGen:C0796254,OMIM:304340,ORPHA:1568	X	15864021	15864021	NM_003916.4:c.288+5G>A		X:g.15864021C>T	OMIM Allelic Variant:300629.0004	C0796254 304340 Mental retardation X-linked syndromic 5
NM_003916.4(AP1S2):c.226G>T (p.Glu76Ter)	8905	AP1S2	Pathogenic	137852213	RCV000011528;	N	MedGen:C0796254,OMIM:304340,ORPHA:1568	X	15864088	15864088	NM_003916.4:c.226G>T	NP_003907.3:p.Glu76Ter	NC_000023.10:g.15864088C>A	OMIM Allelic Variant:300629.0005	C0796254 304340 Mental retardation X-linked syndromic 5
NM_003916.4(AP1S2):c.180-5_180-2delTACA	8905	AP1S2	Pathogenic	587776738	RCV000011526;	N	MedGen:C0796254,OMIM:304340,ORPHA:1568	X	15864136	15864139	NM_003916.4:c.180-5_180-2delTACA			OMIM Allelic Variant:300629.0003	C0796254 304340 Mental retardation X-linked syndromic 5
NM_003916.4(AP1S2):c.154C>T (p.Arg52Ter)	8905	AP1S2	Pathogenic	104894735	RCV000011525;	N	MedGen:C0796254,OMIM:304340,ORPHA:1568	X	15870494	15870494	NM_003916.4:c.154C>T	NP_003907.3:p.Arg52Ter	NC_000023.10:g.15870494G>A	OMIM Allelic Variant:300629.0002	C0796254 304340 Mental retardation X-linked syndromic 5
NM_003916.4(AP1S2):c.106C>T (p.Gln36Ter)	8905	AP1S2	Pathogenic	104894739	RCV000011524;	N	MedGen:C0796254,OMIM:304340,ORPHA:1568	X	15870542	15870542	NM_003916.4:c.106C>T	NP_003907.3:p.Gln36Ter	NC_000023.10:g.15870542G>A	OMIM Allelic Variant:300629.0001	C0796254 304340 Mental retardation X-linked syndromic 5