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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: Abnormalities, Multiple (D000015)
Parent Node: Genetic Diseases, Inborn (D030342)
Parent Node: Joint Diseases (D007592)
Parent Node: Nail Diseases (D009260)
..Starting node ..Nail-Patella Syndrome (D009261)
Child Nodes:
........Salcedo syndrome (C537228)
Sister Nodes:
..Al Gazali Hirschsprung syndrome (C535615)
..Basaran Yilmaz syndrome (C537660)
..Brachydactyly type A5 nail dysplasia (C537091)
..Candidiasis, Familial, 3 (C564361)
..Dermatopathia pigmentosa reticularis (C535374)
..Double Nail for Fifth Toe (C565090)
..ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE (OMIM:602032)
..Endothelial Dystrophy, Congenital Hereditary, with Nail Hypoplasia (C565591)
..Epidermolysis bullosa, late-onset localized junctional, with mental retardation (C535492)
..FLOTCH syndrome (C537065)
..Hooft disease (C535329)
..Judge Misch Wright syndrome (C537692)
..Keratoderma palmoplantar spastic paralysis (C536153)
..Leukonychia totalis (C535889)
..Nail dysplasia, isolated congenital (C538333)
..Nail-Patella Syndrome (D009261) 1
..Nails, Ingrown (D009263)
..Odontomicronychial dysplasia (C537741)
..Onychogryposis, Pedal, with Keratosis Plantaris and Coarse Hair (C563506)
..Onycholysis (D054039) 3
..Onychomycosis (D014009)
..Pachyonychia Congenita (D053549) 5
..Paronychia (D010304)
..Patel Bixler syndrome (C536306)
..Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails (C563941)
..Subungual exostoses (C535723)
..T-cell immunodeficiency, congenital alopecia and nail dystrophy (C536781)
..Toenail Dystrophy, Isolated (C564384)
..Trichoodontoonychial Dysplasia (C564760)
..TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH (OMIM:601675)
..Twenty-Nail Dystrophy (C562907)
..Yellow Nail Syndrome (D056684) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7757

Name:

Nail-Patella Syndrome

Definition:

A syndrome of multiple abnormalities characterized by the absence or hypoplasia of the PATELLA and congenital nail dystrophy. It is a genetically determined autosomal dominant trait.

Alternative IDs:

OMIM:161200

ParentIDs:

MESH:D000015|MESH:D007592|MESH:D009260|MESH:D030342

TreeNumbers:

C05.550.629 |C16.131.077.606 |C16.320.600 |C17.800.529.400

Synonyms:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Skin disease

Reference:

MedGen: D009261
MeSH: D009261
OMIM: 161200;

Genes: LMX1B;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0005255	Absence of pectoralis minor muscle
3	HP:0001032	Absent distal interphalangeal creases
4	HP:0001798	Anonychia
5	HP:0009760	Antecubital pterygium
6	HP:0009783	Biceps aplasia
7	HP:0000518	Cataract
8	HP:0000175	Cleft palate
9	HP:0000204	Cleft upper lip
10	HP:0004209	Clinodactyly of the 5th finger
11	HP:0001598	Concave nail
12	HP:0006437	Disproportionate prominence of the femoral medial condyle
13	HP:0006424	Elongated radius
14	HP:0000501	Glaucoma
15	HP:0006633	Glenoid fossa hypoplasia
16	HP:0000099	Glomerulonephritis
17	HP:0000790	Hematuria
18	HP:0006657	Hypoplasia of first ribs
19	HP:0003997	Hypoplastic radial head
20	HP:0009780	Iliac horns
21	HP:0000563	Keratoconus
22	HP:0009781	Lester's sign
23	HP:0001377	Limited elbow extension
24	HP:0002938	Lumbar hyperlordosis
25	HP:0000482	Microcornea
26	HP:0012376	Microphakia
27	HP:0000100	Nephrotic syndrome
28	HP:0006443	Patellar aplasia	HP:0040282
29	HP:0002999	Patellar dislocation
30	HP:0000767	Pectus excavatum
31	HP:0001763	Pes planus
32	HP:0000093	Proteinuria
33	HP:0000508	Ptosis
34	HP:0009788	Quadriceps aplasia
35	HP:0000083	Renal insufficiency
36	HP:0001807	Ridged nail
37	HP:0002650	Scoliosis
38	HP:0000407	Sensorineural hearing impairment
39	HP:0004322	Short stature
40	HP:0002414	Spina bifida
41	HP:0001762	Talipes equinovarus
42	HP:0006650	Thickening of the lateral border of the scapula
43	HP:0009785	Triceps aplasia

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_002316.3(LMX1B):c.244C>T (p.Gln82Ter)	4010	LMX1B	Pathogenic	121909489	RCV000007420;	N	MedGen:C0027341,OMIM:161200,ORPHA:2614,SNOMED CT:22199006	9	129377766	129377766	NM_002316.3:c.244C>T	NP_002307.2:p.Gln82Ter	NC_000009.11:g.129377766C>T	OMIM Allelic Variant:602575.0006	C0027341 161200 Nail-patella syndrome
NM_001174146.1(LMX1B):c.306C>G (p.Tyr102Ter)	4010	LMX1B	Pathogenic	864621969	RCV000205274;	N	MedGen:C0027341,OMIM:161200,ORPHA:2614,SNOMED CT:22199006	9	129377828	129377828	NM_001174146.1:c.306C>G	NP_001167617.1:p.Tyr102Ter	NC_000009.11:g.129377828C>G	-	C0027341 161200 Nail-patella syndrome
NM_002316.3(LMX1B):c.353G>T (p.Cys118Phe)	4010	LMX1B	Pathogenic	121909488	RCV000007418;	N	MedGen:C0027341,OMIM:161200,ORPHA:2614,SNOMED CT:22199006	9	129453141	129453141	NM_002316.3:c.353G>T	NP_002307.2:p.Cys118Phe	NC_000009.11:g.129453141G>T	OMIM Allelic Variant:602575.0004	C0027341 161200 Nail-patella syndrome
NM_002316.3(LMX1B):c.661C>T (p.Arg221Ter)	4010	LMX1B	Pathogenic	121909487	RCV000007416;	N	MedGen:C0027341,OMIM:161200,ORPHA:2614,SNOMED CT:22199006	9	129455522	129455522	NM_002316.3:c.661C>T	NP_002307.2:p.Arg221Ter	NC_000009.11:g.129455522C>T	OMIM Allelic Variant:602575.0002	C0027341 161200 Nail-patella syndrome
NM_002316.3(LMX1B):c.668G>A (p.Arg223Gln)	4010	LMX1B	Pathogenic	121909491	RCV000007422;	N	MedGen:C0027341,OMIM:161200,ORPHA:2614,SNOMED CT:22199006	9	129455529	129455529	NM_002316.3:c.668G>A	NP_002307.2:p.Arg223Gln	NC_000009.11:g.129455529G>A	OMIM Allelic Variant:602575.0008	C0027341 161200 Nail-patella syndrome
NM_002316.3(LMX1B):c.691C>T (p.Arg231Ter)	4010	LMX1B	Pathogenic	121909490	RCV000007421;	N	MedGen:C0027341,OMIM:161200,ORPHA:2614,SNOMED CT:22199006	9	129455552	129455552	NM_002316.3:c.691C>T	NP_002307.2:p.Arg231Ter	NC_000009.11:g.129455552C>T	OMIM Allelic Variant:602575.0007	C0027341 161200 Nail-patella syndrome
NM_002316.3(LMX1B):c.745C>T (p.Arg249Ter)	4010	LMX1B	Pathogenic	121909492	RCV000007425;	N	MedGen:C0027341,OMIM:161200,ORPHA:2614,SNOMED CT:22199006	9	129455806	129455806	NM_002316.3:c.745C>T	NP_002307.2:p.Arg249Ter	NC_000009.11:g.129455806C>T	OMIM Allelic Variant:602575.0011	C0027341 161200 Nail-patella syndrome
NM_002316.3(LMX1B):c.807C>A (p.Asn269Lys)	4010	LMX1B	Pathogenic	121909486	RCV000007415;	N	MedGen:C0027341,OMIM:161200,ORPHA:2614,SNOMED CT:22199006	9	129455868	129455868	NM_002316.3:c.807C>A	NP_002307.2:p.Asn269Lys	NC_000009.11:g.129455868C>A	OMIM Allelic Variant:602575.0001	C0027341 161200 Nail-patella syndrome