Polydactyly, Postaxial, Type A1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Polydactyly, Postaxial, Type A1

MalaCards integrated aliases for Polydactyly, Postaxial, Type A1:

Name: Polydactyly, Postaxial, Type A1 ⁵⁷

Polydactyly, Postaxial ⁵⁷ ⁵⁵ ⁴⁰ ⁷³

Postaxial Polydactyly ⁷⁵ ³⁷ ²⁹ ⁶

Postaxial Polydactyly Type a ⁵⁹ ⁷⁵ ⁷³

Polydactyly, Postaxial, Types A1 and B ⁵⁷ ¹³

Postaxial Polydactyly, Type a ⁵⁷ ⁵⁵

Papa1 ⁵⁷ ⁷⁵

Papa ⁵⁷ ⁷⁵

Pyogenic Arthritis, Pyoderma Gangrenosum and Acne ⁷³

Postaxial Polydactyly, Type a; Papa ⁵⁷

Polydactyly, Postaxial, Type A1 ) ⁴⁰

Postaxial Polydactyly, Type A1/b ⁶

Postaxial Polydactyly, Type B ⁷³

Postaxial Polydactyly Type B ⁵⁹

Polydactyly, Postaxial A1 ⁷⁵

Polydactyly, Postaxial B ⁷⁵

Postaxial Polydactyly B ⁶

Papb ⁷⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

postaxial polydactyly type a
Inheritance: Autosomal recessive;

OMIM:

⁵⁷

Inheritance:
autosomal dominant

HPO:

³²

polydactyly, postaxial, type a1:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Bone diseases Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Polydactyly

Accessory finger(s)

Orphanet: ⁵⁹

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 174200

Orphanet ⁵⁹ ORPHA93335 ORPHA93334

ICD10 via Orphanet ³⁴ Q69.0

UMLS via Orphanet ⁷⁴ C1868120 C3887487

MedGen ⁴² C4282400 C0220697 C1868120

MeSH ⁴⁴ D017689

KEGG ³⁷ H01852

SNOMED-CT via HPO ⁶⁹ 263681008 373413006 205131007 more

UMLS ⁷³ C3887487 C1858361 C1868120

Sources

Summaries for Polydactyly, Postaxial, Type A1

OMIM : ⁵⁷ Polydactyly refers to the occurrence of supernumerary digits and is the most frequent of congenital hand and foot deformities. Based on the location of the extra digits, polydactyly can be classified into preaxial, involving the thumb or great toe; postaxial, affecting the fifth digit; and central, involving the 3 central digits. Postaxial polydactyly (PAP) is further subclassified into 2 types: in type A, a well-formed extra digit articulates with the fifth or a sixth metacarpal, whereas in type B, a rudimentary, poorly developed extra digit is present (summary by Umm-e-Kalsoom et al., 2012). (174200)

MalaCards based summary : Polydactyly, Postaxial, Type A1, also known as polydactyly, postaxial, is related to mckusick-kaufman syndrome and dandy-walker malformation with postaxial polydactyly. An important gene associated with Polydactyly, Postaxial, Type A1 is GLI3 (GLI Family Zinc Finger 3), and among its related pathways/superpathways are Signaling by Hedgehog and Hedgehog Pathway. Affiliated tissues include skin and bone, and related phenotypes are syndactyly and postaxial hand polydactyly

UniProtKB/Swiss-Prot : ⁷⁵ Polydactyly, postaxial A1: A condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well-formed and articulates with the fifth or a sixth metacarpal/metatarsal. Polydactyly, postaxial B: A condition characterized by an extra digit in the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type B the extra digit is not well formed and is frequently in the form of a skin.

Sources

Related Diseases for Polydactyly, Postaxial, Type A1

Diseases in the Polydactyly, Postaxial, Type A1 family:

Polydactyly, Postaxial, Type A5	Polydactyly, Postaxial, Type A2
Polydactyly, Postaxial, Type A3	Polydactyly, Postaxial, Type A4
Polydactyly, Postaxial, Type A6	Polydactyly, Postaxial, Type A7

Diseases related to Polydactyly, Postaxial, Type A1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)

#	Related Disease	Score	Top Affiliating Genes
1	mckusick-kaufman syndrome	33.9	BBS12 GLI3
2	dandy-walker malformation with postaxial polydactyly	12.5
3	preaxial deficiency, postaxial polydactyly, and hypospadias	12.5
4	scalp defects and postaxial polydactyly	12.5
5	mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly	12.1
6	cortical blindness, retardation, and postaxial polydactyly	12.0
7	ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia	12.0
8	brain malformation-congenital heart disease-postaxial polydactyly syndrome	12.0
9	popliteal pterygium syndrome, lethal type	12.0
10	pyogenic sterile arthritis, pyoderma gangrenosum, and acne	12.0
11	pyogenic arthritis, pyoderma gangrenosum and acne	12.0
12	pallister-hall syndrome	11.9
13	acrocallosal syndrome	11.8
14	oliver syndrome	11.8
15	culler-jones syndrome	11.7
16	polydactyly, postaxial, type a6	11.0
17	polydactyly, postaxial, type a7	11.0
18	talipes equinovarus	10.5	CC2D2A GLI3
19	polydactyly	10.4
20	pyoderma	10.3
21	pyoderma gangrenosum	10.3
22	synovial chondromatosis	10.3	BMP4 GLI3
23	arthritis	10.3
24	bardet-biedl syndrome 13	10.2	BBS12 CC2D2A
25	chand syndrome	9.9
26	char syndrome	9.8	BMP4 EVC
27	popliteal pterygium syndrome	9.8
28	nipples, supernumerary	9.8
29	familial mediterranean fever	9.8
30	multiple pterygium syndrome, escobar variant	9.8
31	ischemic heart disease	9.8
32	synpolydactyly	9.8
33	brucellosis	9.8
34	heart disease	9.8
35	hidradenitis	9.8
36	headache	9.8
37	physical disorder	9.6	BMP4 GLI3
38	weyers acrofacial dysostosis	9.5	EVC EVC2
39	acrofacial dysostosis	9.4	EVC EVC2
40	clouston syndrome	9.4	EVC EVC2
41	short-rib thoracic dysplasia 6 with or without polydactyly	9.3	EVC EVC2
42	atrioventricular septal defect	9.1	EVC EVC2

Graphical network of the top 20 diseases related to Polydactyly, Postaxial, Type A1:

Sources

Symptoms & Phenotypes for Polydactyly, Postaxial, Type A1

Symptoms via clinical synopsis from OMIM:

⁵⁷

Skeletal Hands:
postaxial polydactyly (bilateral, sometimes extra digits are well formed and articulated)
preaxial polydactyly (bilateral or unilateral)
triphalangeal thumb (in some patients)
syndactyly (in some patients)
broad thumbs (in some patients)

Skeletal Feet:
postaxial polydactyly
preaxial polydactyly
syndactyly (in some patients)

Clinical features from OMIM:

174200

Human phenotypes related to Polydactyly, Postaxial, Type A1:

³²

#	Description	HPO Frequency	HPO Source Accession
1	syndactyly ³²	occasional (7.5%)	HP:0001159
2	postaxial hand polydactyly ³²		HP:0001162
3	triphalangeal thumb ³²	occasional (7.5%)	HP:0001199
4	broad thumb ³²	occasional (7.5%)	HP:0011304
5	preaxial polydactyly ³²		HP:0100258

MGI Mouse Phenotypes related to Polydactyly, Postaxial, Type A1:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	craniofacial	MP:0005382	9.55	BMP4 CC2D2A EVC EVC2 GLI3
2	limbs/digits/tail	MP:0005371	9.43	BMP4 CC2D2A EVC EVC2 GLI3 IQCE
3	skeleton	MP:0005390	9.1	BBS12 BMP4 EVC EVC2 GLI3 IQCE

Sources

Drugs & Therapeutics for Polydactyly, Postaxial, Type A1

Search Clinical Trials , NIH Clinical Center for Polydactyly, Postaxial, Type A1

Sources

Genetic Tests for Polydactyly, Postaxial, Type A1

Genetic tests related to Polydactyly, Postaxial, Type A1:

#	Genetic test	Affiliating Genes
1	Postaxial Polydactyly ²⁹	GLI3

Sources

Anatomical Context for Polydactyly, Postaxial, Type A1

MalaCards organs/tissues related to Polydactyly, Postaxial, Type A1:

⁴¹

Skin, Bone

Sources

Publications for Polydactyly, Postaxial, Type A1

Articles related to Polydactyly, Postaxial, Type A1:

#	Title	Authors	Year
1	Polydactyly, postaxial, type B. ( 29377639 )	Holmes L.B....Westgate M.N.	2018

Sources

Genes for Polydactyly, Postaxial, Type A1

Genes related to Polydactyly, Postaxial, Type A1 (9 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GLI3	GLI Family Zinc Finger 3	Protein Coding	1682.09	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	9042919 10441570 15778992 (more) 11973619 12734547 9354785 10077605 15390181
2	BBS12	Bardet-Biedl Syndrome 12	Protein Coding	400	Pathogenic ⁶
3	CC2D2A	Coiled-Coil And C2 Domain Containing 2A	Protein Coding	400	Pathogenic ⁶
4	IQCE	IQ Motif Containing E	Protein Coding	350	Causative germline mutation ⁵⁹
5	ZNF141	Zinc Finger Protein 141	Protein Coding	350	Causative germline mutation ⁵⁹
6	PAPA4	Polydactyly, Postaxial, Type A4	Genetic Locus	50	MalaCards inferred ⁵⁷
7	PAPA5	Polydactyly, Postaxial, Type A5	Genetic Locus	50	MalaCards inferred ⁵⁷
8	PAPA3	Polydactyly, Postaxial, Type A3	Genetic Locus	50	MalaCards inferred ⁵⁷
9	PAPA2	Postaxial Polydactyly, Type A2	Genetic Locus	50	MalaCards inferred ⁵⁷
10	EVC	EvC Ciliary Complex Subunit 1	Protein Coding	21.37	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	10700184 17392984
11	EVC2	EvC Ciliary Complex Subunit 2	Protein Coding	21.21	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	17392984
12	BMP4	Bone Morphogenetic Protein 4	Protein Coding	15.73	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	15581864 10964473

Sources

Variations for Polydactyly, Postaxial, Type A1

UniProtKB/Swiss-Prot genetic disease variations for Polydactyly, Postaxial, Type A1:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	GLI3	p.Gly727Arg	VAR_009876	rs121917710

ClinVar genetic disease variations for Polydactyly, Postaxial, Type A1:

⁶

(show all 19)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	BBS12	NM_152618.2(BBS12): c.1063C> T (p.Arg355Ter)	single nucleotide variant	Pathogenic	rs121918327	GRCh37	Chromosome 4, 123664110: 123664110
2	BBS12	NM_152618.2(BBS12): c.1063C> T (p.Arg355Ter)	single nucleotide variant	Pathogenic	rs121918327	GRCh38	Chromosome 4, 122742955: 122742955
3	GLI3	NM_000168.5(GLI3): c.1927C> T (p.Arg643Ter)	single nucleotide variant	Pathogenic	rs121917709	GRCh38	Chromosome 7, 41972513: 41972513
4	GLI3	GLI3, 1-BP DEL, 3707G	deletion	Pathogenic
5	GLI3	NM_000168.5(GLI3): c.1927C> T (p.Arg643Ter)	single nucleotide variant	Pathogenic	rs121917709	GRCh37	Chromosome 7, 42012112: 42012112
6	GLI3	GLI3, CODON 764, FS	undetermined variant	Pathogenic
7	GLI3	GLI3, 1-BP DEL, 2372C	deletion	Pathogenic
8	GLI3	NM_000168.5(GLI3): c.1616_1617delGA (p.Arg539Thrfs)	deletion	Pathogenic	rs398122899	GRCh37	Chromosome 7, 42018228: 42018229
9	GLI3	NM_000168.5(GLI3): c.1616_1617delGA (p.Arg539Thrfs)	deletion	Pathogenic	rs398122899	GRCh38	Chromosome 7, 41978629: 41978630
10	CC2D2A	NM_001080522.2(CC2D2A): c.4179+1delG (p.Gly1394Valfs)	deletion	Pathogenic	rs386833760	GRCh37	Chromosome 4, 15589553: 15589553
11	CC2D2A	NM_001080522.2(CC2D2A): c.4179+1delG (p.Gly1394Valfs)	deletion	Pathogenic	rs386833760	GRCh38	Chromosome 4, 15587930: 15587930
12	GLI3	NM_000168.5(GLI3): c.2252delA (p.Asp751Alafs)	deletion	Pathogenic	rs1057518698	GRCh38	Chromosome 7, 41967775: 41967775
13	GLI3	NM_000168.5(GLI3): c.2252delA (p.Asp751Alafs)	deletion	Pathogenic	rs1057518698	GRCh37	Chromosome 7, 42007373: 42007373
14	GLI3	NM_000168.5(GLI3): c.3635delG (p.Gly1212Alafs)	deletion	Pathogenic	rs1060499558	GRCh37	Chromosome 7, 42005036: 42005036
15	GLI3	NM_000168.5(GLI3): c.3635delG (p.Gly1212Alafs)	deletion	Pathogenic	rs1060499558	GRCh38	Chromosome 7, 41965438: 41965438
16	CC2D2A	NM_001080522.2(CC2D2A): c.1149+1G> A	single nucleotide variant	Pathogenic		GRCh37	Chromosome 4, 15518380: 15518380
17	CC2D2A	NM_001080522.2(CC2D2A): c.1149+1G> A	single nucleotide variant	Pathogenic		GRCh38	Chromosome 4, 15516757: 15516757
18	OFD1	NM_003611.2(OFD1): c.1999G> A (p.Ala667Thr)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome X, 13778578: 13778578
19	OFD1	NM_003611.2(OFD1): c.1999G> A (p.Ala667Thr)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome X, 13760459: 13760459

Sources

Expression for Polydactyly, Postaxial, Type A1

Search GEO for disease gene expression data for Polydactyly, Postaxial, Type A1.

Sources

Pathways for Polydactyly, Postaxial, Type A1

Pathways related to Polydactyly, Postaxial, Type A1 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Signaling by Hedgehog ⁶⁶ Show member pathways Activation of SMO ⁶⁶ Hedgehog off' state ⁶⁶ Hedgehog on' state ⁶⁶	11.46	EVC EVC2 GLI3 IQCE
2	Hedgehog Pathway ⁷² Show member pathways GLI proteins bind promoters of Hh responsive genes to promote transcription ⁶⁶ Hedgehog signaling events mediated by Gli proteins ¹ Hedgehog signaling pathway ³⁷ Hedgehog Signaling Pathway ¹	11.24	EVC EVC2 GLI3

Sources

GO Terms for Polydactyly, Postaxial, Type A1

Cellular components related to Polydactyly, Postaxial, Type A1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cell projection	GO:0042995	9.63	BBS12 CC2D2A EVC EVC2 GLI3 IQCE
2	ciliary membrane	GO:0060170	9.43	EVC EVC2 IQCE
3	plasma membrane protein complex	GO:0098797	9.13	EVC EVC2 IQCE
4	cilium	GO:0005929	9.1	BBS12 CC2D2A EVC EVC2 GLI3 IQCE

Biological processes related to Polydactyly, Postaxial, Type A1 according to GeneCards Suite gene sharing:

(show all 18)

#	Name	GO ID	Score	Top Affiliating Genes
1	heart development	GO:0007507	9.67	BMP4 CC2D2A GLI3
2	embryonic digit morphogenesis	GO:0042733	9.58	BMP4 GLI3
3	positive regulation of osteoblast differentiation	GO:0045669	9.57	BMP4 GLI3
4	odontogenesis of dentin-containing tooth	GO:0042475	9.56	BMP4 GLI3
5	embryonic limb morphogenesis	GO:0030326	9.55	BMP4 GLI3
6	embryonic skeletal system morphogenesis	GO:0048704	9.54	BMP4 GLI3
7	branching involved in ureteric bud morphogenesis	GO:0001658	9.52	BMP4 GLI3
8	regulation of cell differentiation	GO:0045595	9.51	BMP4 GLI3
9	metanephros development	GO:0001656	9.48	BMP4 GLI3
10	branching morphogenesis of an epithelial tube	GO:0048754	9.46	BMP4 GLI3
11	neuron fate commitment	GO:0048663	9.43	BMP4 GLI3
12	telencephalon development	GO:0021537	9.4	BMP4 GLI3
13	limb morphogenesis	GO:0035108	9.37	GLI3 ZNF141
14	anatomical structure formation involved in morphogenesis	GO:0048646	9.32	BMP4 GLI3
15	camera-type eye morphogenesis	GO:0048593	9.26	BMP4 GLI3
16	embryonic morphogenesis	GO:0048598	9.16	BMP4 GLI3
17	camera-type eye development	GO:0043010	9.13	BMP4 CC2D2A GLI3
18	smoothened signaling pathway	GO:0007224	9.02	BMP4 CC2D2A EVC EVC2 GLI3

Sources

Sources for Polydactyly, Postaxial, Type A1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia