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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

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

Disease Browser
Parent Node: Albright's hereditary osteodystrophy (C537045)
Parent Node: Diseases (C)
Parent Node: Pseudohypoparathyroidism (D011547)
..Starting node ..PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
Child Nodes:
Sister Nodes:
..Albright's hereditary osteodystrophy (C537045) 1
..Pseudohypoparathyroidism Type 1B (C548075)
..Pseudohypoparathyroidism Type 1C (C548076)
..Pseudohypoparathyroidism Type 2 (C548077)
..PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
..Pseudopseudohypoparathyroidism (D011556)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9425

Name:

PSEUDOHYPOPARATHYROIDISM, TYPE IA

Definition:

Alternative IDs:

ParentIDs:

MESH:C537045|MESH:D011547

TreeNumbers:

C05.116.198.709/103580 |C05.116.198.709/C537045/103580 |C16.320.565.618.815/103580 |C16.320.565.618.815/C537045/103580 |C18.452.174.766/103580 |C18.452.174.766/C537045/103580 |C18.452.648.618.815/103580 |C18.452.648.618.815/C537045/103580

Synonyms:

ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE |PHP1A |PHP IA

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease

Reference:

MedGen: 103580
MeSH: 103580
OMIM: 103580;

Genes: GNAS;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002135	Basal ganglia calcification
3	HP:0001156	Brachydactyly
4	HP:0000518	Cataract
5	HP:0006960	Choroid plexus calcification
6	HP:0100543	Cognitive impairment
7	HP:0000684	Delayed eruption of teeth
8	HP:0005280	Depressed nasal bridge
9	HP:0003165	Elevated circulating parathyroid hormone level
10	HP:0006297	Enamel hypoplasia
11	HP:0000293	Full cheeks
12	HP:0002905	Hyperphosphatemia
13	HP:0003472	Hypocalcemic tetany
14	HP:0000135	Hypogonadism
15	HP:0000821	Hypothyroidism
16	HP:0001249	Intellectual disability
17	HP:0003456	Low urinary cyclic AMP response to PTH administration
18	HP:0000639	Nystagmus
19	HP:0001513	Obesity
20	HP:0000939	Osteoporosis
21	HP:0003812	Phenotypic variability
22	HP:0000852	Pseudohypoparathyroidism
23	HP:0000311	Round face
24	HP:0001250	Seizure
25	HP:0009381	Short finger
26	HP:0010049	Short metacarpal
27	HP:0010743	Short metatarsal
28	HP:0000470	Short neck
29	HP:0004322	Short stature
30	HP:0001831	Short toe
31	HP:0002684	Thickened calvaria

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_001077488.3(GNAS):c.1A>G (p.Met1Val)	2778	GNAS	Pathogenic	137854530	RCV000017278;	N	MedGen:C0033806,OMIM:103580,ORPHA:97593	20	57466782	57466782	NM_001077488.3:c.1A>G	NP_001070956.1:p.Met1Val	NC_000020.10:g.57466782A>G	OMIM Allelic Variant:139320.0001	C0033806 103580 Pseudohypoparathyroidism type 1A
NM_000516.5(GNAS):c.34C>T (p.Gln12Ter)	2778	GNAS	Pathogenic	797045046	RCV000191090;	N	MedGen:C0033806,OMIM:103580,ORPHA:97593; MedGen:C0033835,OMIM:612463,ORPHA:79445,SNOMED CT:237659007	20	57466815	57466815	NM_000516.5:c.34C>T	NP_000507.1:p.Gln12Ter	NC_000020.10:g.57466815C>T	-	C0033806 103580 Pseudohypoparathyroidism type 1A; C0033835 612463 Pseudopseudohypoparathyroidism
NM_001077488.3(GNAS):c.299T>C (p.Leu100Pro)	2778	GNAS	Pathogenic	137854531	RCV000017285;	N	MedGen:C0033806,OMIM:103580,ORPHA:97593	20	57478624	57478624	NM_001077488.3:c.299T>C	NP_001070956.1:p.Leu100Pro	NC_000020.10:g.57478624T>C	OMIM Allelic Variant:139320.0006	C0033806 103580 Pseudohypoparathyroidism type 1A
NM_001077488.3(GNAS):c.347C>T (p.Pro116Leu)	2778	GNAS	Pathogenic	137854539	RCV000017323; RCV000017322;	N	MedGen:C0033806,OMIM:103580,ORPHA:97593; MedGen:C0033835,OMIM:612463,ORPHA:79445,SNOMED CT:237659007	20	57478758	57478758	NM_001077488.3:c.347C>T	NP_001070956.1:p.Pro116Leu	NC_000020.10:g.57478758C>T	OMIM Allelic Variant:139320.0029	C0033806 103580 Pseudohypoparathyroidism type 1A; C0033835 612463 Pseudopseudohypoparathyroidism
NM_001077488.3(GNAS):c.496C>T (p.Arg166Cys)	2778	GNAS	Pathogenic	137854532	RCV000017286;	N	MedGen:C0033806,OMIM:103580,ORPHA:97593	20	57480498	57480498	NM_001077488.3:c.496C>T	NP_001070956.1:p.Arg166Cys	NC_000020.10:g.57480498C>T	OMIM Allelic Variant:139320.0007	C0033806 103580 Pseudohypoparathyroidism type 1A
NM_001077488.3(GNAS):c.568_571delGACT (p.Asp190Metfs)	2778	GNAS	Pathogenic	587776829	RCV000017300; RCV000017302; RCV000017301;	N	MedGen:C0033806,OMIM:103580,ORPHA:97593; MedGen:C0033835,OMIM:612463,ORPHA:79445,SNOMED CT:237659007; MedGen:C0334041,OMIM:166350,ORPHA:2762	20	57484251	57484254	NM_001077488.3:c.568_571delGACT	NP_001070956.1:p.Asp190Metfs		OMIM Allelic Variant:139320.0011	C0334041 166350 Progressive osseous heteroplasia; C0033806 103580 Pseudohypoparathyroidism type 1A; C0033835 612463 Pseudopseudohypoparathyroidism
NM_001077488.3(GNAS):c.695G>A (p.Arg232His)	2778	GNAS	Pathogenic	137854538	RCV000017311;	N	MedGen:C0033806,OMIM:103580,ORPHA:97593	20	57484608	57484608	NM_001077488.3:c.695G>A	NP_001070956.1:p.Arg232His	NC_000020.10:g.57484608G>A	OMIM Allelic Variant:139320.0020	C0033806 103580 Pseudohypoparathyroidism type 1A
NM_001077488.3(GNAS):c.753C>G (p.Ser251Arg)	2778	GNAS	Pathogenic	137854534	RCV000017303;	N	MedGen:C0033806,OMIM:103580,ORPHA:97593	20	57484770	57484770	NM_001077488.3:c.753C>G	NP_001070956.1:p.Ser251Arg	NC_000020.10:g.57484770C>G	OMIM Allelic Variant:139320.0014	C0033806 103580 Pseudohypoparathyroidism type 1A
NM_000516.5(GNAS):c.880C>T (p.Gln294Ter)	2778	GNAS	Likely pathogenic	863224876	RCV000196321;	N	MedGen:C0033806,OMIM:103580,ORPHA:97593; MedGen:C2675910,OMIM:612462	20	57485046	57485046	NM_000516.5:c.880C>T	NP_000507.1:p.Gln294Ter	NC_000020.10:g.57485046C>T	-	C0033806 103580 Pseudohypoparathyroidism type 1A; C2675910 612462 Pseudohypoparathyroidism type 1C
NM_001077488.3(GNAS):c.1177G>A (p.Glu393Lys)	2778	GNAS	Pathogenic	397514456	RCV000174485; RCV000174486; RCV000022599;	N	MedGen:C0033806,OMIM:103580,ORPHA:97593; MedGen:C0033835,OMIM:612463,ORPHA:79445,SNOMED CT:237659007; MedGen:C2675910,OMIM:612462	20	57485873	57485873	NM_001077488.3:c.1177G>A	NP_001070956.1:p.Glu393Lys	NC_000020.10:g.57485873G>A,NC_000020.10:g.57485873G>T	OMIM Allelic Variant:139320.0040	C0033806 103580 Pseudohypoparathyroidism type 1A; C2675910 612462 Pseudohypoparathyroidism type 1C; C0033835 612463 Pseudopseudohypoparathyroidism