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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: Brachydactyly (D059327)
Parent Node: Hypertension (D006973)
..Starting node ..Brachydactyly with hypertension (C537095)
Child Nodes:
Sister Nodes:
..Adams Nance syndrome (C538224)
..Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly (C566529)
..Brachydactyly with hypertension (C537095)
..Faye-Petersen Ward Carey syndrome (C537076)
..Hypertension Resistant to Conventional Therapy (C563514)
..Hypertension, Diastolic, Resistance to (C563897)
..Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy (C565359)
..Hypertension, Essential (C562386)
..Hypertension, Malignant (D006974)
..Hypertension, Pregnancy-Induced (D046110) 7
..Hypertension, Renal (D006977) 3
..Hypertensive Retinopathy (D058437)
..Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial (C564024)
..Kallikrein hypertension (C537707)
..Masked Hypertension (D059468)
..Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension (C563478)
..Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria (C566880)
..White Coat Hypertension (D059466)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1429

Name:

Brachydactyly with hypertension

Definition:

Alternative IDs:

OMIM:112410

ParentIDs:

MESH:D006973|MESH:D059327

TreeNumbers:

C05.660.585.262/C537095 |C14.907.489/C537095 |C16.131.621.585.262/C537095

Synonyms:

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Musculoskeletal disease

Reference:

MedGen: C537095
MeSH: C537095
OMIM: 112410;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001156	Brachydactyly
3	HP:0010579	Cone-shaped epiphysis	HP:0040283
4	HP:0000822	Hypertension
5	HP:0010049	Short metacarpal
6	HP:0009803	Short phalanx of finger
7	HP:0004322	Short stature

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_000921.4(PDE3A):c.1333A>G (p.Thr445Ala)	5139	PDE3A	Pathogenic	794726865	RCV000173039;	N	Gene:8080,MedGen:C1862170,OMIM:112410,ORPHA:1276	12	20769227	20769227	NM_000921.4:c.1333A>G	NP_000912.3:p.Thr445Ala	NC_000012.11:g.20769227A>G	OMIM Allelic Variant:123805.0002	C1862170 112410 Brachydactyly with hypertension
NM_000921.4(PDE3A):c.1334C>A (p.Thr445Asn)	5139	PDE3A	Pathogenic	794726864	RCV000173038;	N	Gene:8080,MedGen:C1862170,OMIM:112410,ORPHA:1276	12	20769228	20769228	NM_000921.4:c.1334C>A	NP_000912.3:p.Thr445Asn	NC_000012.11:g.20769228C>A	OMIM Allelic Variant:123805.0001	C1862170 112410 Brachydactyly with hypertension
NG_030033.1:g.252050C>G	5139	PDE3A	Pathogenic	794726864	RCV000173040;	N	Gene:8080,MedGen:C1862170,OMIM:112410,ORPHA:1276	12	20769228	20769228	NM_000921.4:c.1334C>G			OMIM Allelic Variant:123805.0003	C1862170 112410 Brachydactyly with hypertension
NM_000921.4(PDE3A):c.1339G>A (p.Ala447Thr)	5139	PDE3A	Pathogenic	794726866	RCV000173041;	N	Gene:8080,MedGen:C1862170,OMIM:112410,ORPHA:1276	12	20769233	20769233	NM_000921.4:c.1339G>A	NP_000912.3:p.Ala447Thr	NC_000012.11:g.20769233G>A	OMIM Allelic Variant:123805.0004	C1862170 112410 Brachydactyly with hypertension
NM_000921.4(PDE3A):c.1340C>T (p.Ala447Val)	5139	PDE3A	Pathogenic	794726867	RCV000173042;	N	Gene:8080,MedGen:C1862170,OMIM:112410,ORPHA:1276	12	20769234	20769234	NM_000921.4:c.1340C>T	NP_000912.3:p.Ala447Val	NC_000012.11:g.20769234C>T	OMIM Allelic Variant:123805.0005	C1862170 112410 Brachydactyly with hypertension
NM_000921.4(PDE3A):c.1346G>T (p.Gly449Val)	5139	PDE3A	Pathogenic	794726868	RCV000173043;	N	Gene:8080,MedGen:C1862170,OMIM:112410,ORPHA:1276	12	20769240	20769240	NM_000921.4:c.1346G>T	NP_000912.3:p.Gly449Val	NC_000012.11:g.20769240G>T	OMIM Allelic Variant:123805.0006	C1862170 112410 Brachydactyly with hypertension