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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

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Intellectual Disability (D008607)
Parent Node: Phosphorus Metabolism Disorders (D010760)
..Starting node ..Hyperphosphatasia with Mental Retardation (C565495)
Child Nodes:
........HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
........HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Sister Nodes:
..Hyperphosphatasia with Mental Retardation (C565495) 2
..Hyperphosphatemia (D054559) 3
..Hypophosphatemia (D017674) 17
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5456

Name:

Hyperphosphatasia with Mental Retardation

Definition:

Alternative IDs:

ParentIDs:

MESH:D000015|MESH:D008607|MESH:D010760

TreeNumbers:

C10.597.606.643/C565495 |C16.131.077/C565495 |C18.452.750/C565495 |C23.888.592.604.646/C565495 |F03.550.600/C565495

Synonyms:

Slim Mappings:

Congenital abnormality|Mental disorder|Metabolic disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C565495
MeSH: C565495
OMIM: 239300;

Genes: PIGV;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001090	Abnormally large globe	HP:0040282
3	HP:0001344	Absent speech	HP:0040281
4	HP:0002251	Aganglionic megacolon	HP:0040284
5	HP:0001545	Anteriorly placed anus	HP:0040284
6	HP:0000455	Broad nasal tip	HP:0040284
7	HP:0000175	Cleft palate	HP:0040283
8	HP:0000204	Cleft upper lip	HP:0040284
9	HP:0002019	Constipation	HP:0040284
10	HP:0001216	Delayed ossification of carpal bones	HP:0040284
11	HP:0002714	Downturned corners of mouth	HP:0040284
12	HP:0003155	Elevated circulating alkaline phosphatase concentration	HP:0040284
13	HP:0001290	Generalized hypotonia
14	HP:0002553	Highly arched eyebrow
15	HP:0000238	Hydrocephalus	HP:0040284
16	HP:0000316	Hypertelorism	HP:0040284
17	HP:0001252	Hypotonia	HP:0040284
18	HP:0001249	Intellectual disability	HP:0040284
19	HP:0010864	Intellectual disability, severe
20	HP:0000637	Long palpebral fissure	HP:0040282
21	HP:0000272	Malar flattening
22	HP:0000303	Mandibular prognathia
23	HP:0011800	Midface retrusion
24	HP:0001357	Plagiocephaly
25	HP:0000358	Posteriorly rotated ears	HP:0040282
26	HP:0001250	Seizure	HP:0040284
27	HP:0000407	Sensorineural hearing impairment	HP:0040284
28	HP:0009882	Short distal phalanx of finger	HP:0040284
29	HP:0000322	Short philtrum
30	HP:0001831	Short toe	HP:0040283
31	HP:0001792	Small nail	HP:0040282
32	HP:0001182	Tapered finger
33	HP:0010804	Tented upper lip vermilion
34	HP:0000219	Thin upper lip vermilion	HP:0040282
35	HP:0000582	Upslanted palpebral fissure	HP:0040282
36	HP:0000431	Wide nasal bridge	HP:0040284

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_017837.3(PIGV):c.467G>A (p.Cys156Tyr)	55650	PIGV	Pathogenic	387907023	RCV000023806;	N	MedGen:C1855923,OMIM:239300	1	27120992	27120992	NM_017837.3:c.467G>A	NP_060307.2:p.Cys156Tyr	NC_000001.10:g.27120992G>A	OMIM Allelic Variant:610274.0005	C1855923 239300 Hyperphosphatasia with mental retardation syndrome 1
NM_017837.3(PIGV):c.494C>A (p.Ala165Glu)	55650	PIGV	Pathogenic	376328153	RCV000122740;	N	MedGen:C1855923,OMIM:239300	1	27121019	27121019	NM_017837.3:c.494C>A	NP_060307.2:p.Ala165Glu	NC_000001.10:g.27121019C>A	OMIM Allelic Variant:610274.0006	C1855923 239300 Hyperphosphatasia with mental retardation syndrome 1
NM_017837.3(PIGV):c.766C>A (p.Gln256Lys)	55650	PIGV	Pathogenic	267606952	RCV000001349;	N	MedGen:C1855923,OMIM:239300	1	27121291	27121291	NM_017837.3:c.766C>A	NP_060307.2:p.Gln256Lys	NC_000001.10:g.27121291C>A	OMIM Allelic Variant:610274.0003	C1855923 239300 Hyperphosphatasia with mental retardation syndrome 1
NM_017837.3(PIGV):c.1022C>A (p.Ala341Glu)	55650	PIGV	Pathogenic	139073416	RCV000001347; RCV000190698;	N	MedGen:C0950123; MedGen:C1855923,OMIM:239300	1	27121547	27121547	NM_017837.3:c.1022C>A	NP_060307.2:p.Ala341Glu	NC_000001.10:g.27121547C>A,NC_000001.10:g.27121547C>T	OMIM Allelic Variant:610274.0001	C1855923 239300 Hyperphosphatasia with mental retardation syndrome 1; C0950123 Inborn genetic diseases
NM_017837.3(PIGV):c.1022C>T (p.Ala341Val)	55650	PIGV	Pathogenic	139073416	RCV000001350;	N	MedGen:C1855923,OMIM:239300	1	27121547	27121547	NM_017837.3:c.1022C>T	NP_060307.2:p.Ala341Val	NC_000001.10:g.27121547C>A,NC_000001.10:g.27121547C>T	OMIM Allelic Variant:610274.0004	C1855923 239300 Hyperphosphatasia with mental retardation syndrome 1
NM_017837.3(PIGV):c.1154A>C (p.His385Pro)	55650	PIGV	Pathogenic	267606951	RCV000001348;	N	MedGen:C1855923,OMIM:239300	1	27121679	27121679	NM_017837.3:c.1154A>C	NP_060307.2:p.His385Pro	NC_000001.10:g.27121679A>C	OMIM Allelic Variant:610274.0002	C1855923 239300 Hyperphosphatasia with mental retardation syndrome 1