Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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

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

Disease Browser
Parent Node: Diseases (C)
Parent Node: Hyperphosphatasia with Mental Retardation (C565495)
Parent Node: Hypertelorism (D006972)
..Starting node ..HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
Child Nodes:
Sister Nodes:
..Acrootoocular Syndrome (C564866)
..Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects (C566351)
..Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..Bagatelle Cassidy syndrome (C537796)
..Barber Say syndrome (C537908)
..Brachycephalofrontonasal dysplasia (C537085)
..Camptodactyly Syndrome, Guadalajara, Type II (C567138)
..Camptodactyly Syndrome, Guadalajara, Type III (C567455)
..Chromosome 6pter-P24 Deletion Syndrome (C567239)
..De Hauwere Leroy Adriaenssens syndrome (C535991)
..Facial Abnormalities, Kyphoscoliosis, and Mental Retardation (C565580)
..FRONTONASAL DYSPLASIA 1 (OMIM:136760)
..FRONTONASAL DYSPLASIA 2 (OMIM:613451)
..FRONTONASAL DYSPLASIA 3 (OMIM:613456)
..Gastrocutaneous syndrome (C535651)
..Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness (C565518)
..HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
..Hypertelorism and tetralogy of Fallot (C538386)
..Hypertelorism with esophageal abnormality and hypospadias (C538387)
..HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS (OMIM:614187)
..Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility (C566988)
..Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss (C566373)
..Krauss Herman Holmes syndrome (C537618)
..Marles Greenberg Persaud syndrome (C536022)
..Naguib-Richieri-Costa syndrome (C538332)
..Opitz GBBB Syndrome, X-Linked (C567932)
..Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia (C564881)
..Roberts Syndrome (C535687)
..Santos Mateus Leal syndrome (C537235)
..Schwartz-Lelek syndrome (C537519)
..Seaver Cassidy syndrome (C537529)
..Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (C567475)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5457

Name:

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1

Definition:

Alternative IDs:

ParentIDs:

MESH:C565495|MESH:D006972

TreeNumbers:

C05.116.099.370.231.480/239300 |C05.660.207.231.480/239300 |C10.597.606.643/C565495/239300 |C16.131.077/C565495/239300 |C16.131.621.207.231.480/239300 |C18.452.750/C565495/239300 |C23.888.592.604.646/C565495/239300 |F03.550.600/C565495/239300

Synonyms:

HPMRS1 |MABRY SYNDROME

Slim Mappings:

Reference:

MedGen: 239300
MeSH: 239300
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