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

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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 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

Postaxial Polydactyly ⁷⁵

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

SNOMED-CT via HPO ⁶⁹ 263681008 373413006 205131007 more

UMLS ⁷³ C3887487 C1858361 C0220697 more

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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 weyers acrofacial dysostosis. 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, bone and brain, and related phenotypes are broad thumb and triphalangeal thumb

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.

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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
Polydactyly, Postaxial, Type A8

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

(show top 50) (show all 144)

#	Related Disease	Score	Top Affiliating Genes
1	mckusick-kaufman syndrome	33.5	GLI3 BBS12
2	weyers acrofacial dysostosis	31.7	EVC2 EVC
3	polydactyly	30.7	ZNF141 GLI3 EVC
4	atrioventricular septal defect	29.9	EVC2 EVC
5	dandy-walker malformation with postaxial polydactyly	12.7
6	preaxial deficiency, postaxial polydactyly, and hypospadias	12.7
7	scalp defects and postaxial polydactyly	12.6
8	bartsocas-papas syndrome	12.6
9	mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly	12.3
10	polydactyly, postaxial, type a5	12.3
11	polydactyly, postaxial, type a3	12.3
12	polydactyly, postaxial, type a4	12.3
13	polydactyly, postaxial, type a2	12.3
14	polydactyly, postaxial, with progressive myopia	12.2
15	polydactyly, postaxial, with dental and vertebral anomalies	12.2
16	polydactyly, postaxial, type a8	12.2
17	cortical blindness, retardation, and postaxial polydactyly	12.2
18	ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia	12.2
19	brain malformation-congenital heart disease-postaxial polydactyly syndrome	12.2
20	pyogenic sterile arthritis, pyoderma gangrenosum, and acne	12.1
21	pyogenic arthritis, pyoderma gangrenosum and acne	12.1
22	pallister-hall syndrome	12.1
23	acrocallosal syndrome	12.0
24	oliver syndrome	11.9
25	kozlowski-krajewska syndrome	11.9
26	culler-jones syndrome	11.9
27	pseudotrisomy 13 syndrome	11.7
28	ellis-van creveld syndrome	11.6
29	megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	11.6
30	orofaciodigital syndrome v	11.5
31	hydrolethalus syndrome 2	11.4
32	greig cephalopolysyndactyly syndrome	11.3
33	synpolydactyly 1	11.3
34	megalencephaly-capillary malformation-polymicrogyria syndrome	11.3
35	joubert syndrome 14	11.3
36	tibia, hypoplasia or aplasia of, with polydactyly	11.2
37	biemond syndrome ii	11.2
38	ohdo syndrome, sbbys variant	11.2
39	garret tripp syndrome	11.2
40	polydactyly, postaxial, type a6	11.1
41	polydactyly, postaxial, type a7	11.1
42	acrocephalopolydactylous dysplasia	11.1
43	orofaciodigital syndrome iii	11.1
44	orofaciodigital syndrome viii	11.1
45	mental retardation, x-linked 99, syndromic, female-restricted	11.1
46	meckel syndrome, type 2	11.1
47	bardet-biedl syndrome 6	11.1
48	cerebrooculonasal syndrome	11.1
49	lathosterolosis	11.1
50	meckel syndrome, type 3	11.1

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

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Symptoms & Phenotypes for Polydactyly, Postaxial, Type A1

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

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)

Clinical features from OMIM:

174200

Human phenotypes related to Polydactyly, Postaxial, Type A1:

³²

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

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Drugs & Therapeutics for Polydactyly, Postaxial, Type A1

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

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Genetic Tests for Polydactyly, Postaxial, Type A1

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Anatomical Context for Polydactyly, Postaxial, Type A1

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

⁴¹

Skin, Bone, Brain, Heart

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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

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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	1582.09	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Novoseek inferred ⁵⁵	18000979 10441570 22428873 (more) 9042919 10441570 15778992 11973619 12734547 9354785 10077605 15390181
2	CC2D2A	Coiled-Coil And C2 Domain Containing 2A	Protein Coding	400	Pathogenic ⁶
3	BBS12	Bardet-Biedl Syndrome 12	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	PAPA5	Polydactyly, Postaxial, Type A5	Genetic Locus	50	MalaCards inferred ⁴¹
7	PAPA4	Polydactyly, Postaxial, Type A4	Genetic Locus	50	MalaCards inferred ⁴¹
8	PAPA3	Polydactyly, Postaxial, Type A3	Genetic Locus	50	MalaCards inferred ⁴¹
9	PAPA2	Postaxial Polydactyly, Type A2	Genetic Locus	50	MalaCards inferred ⁴¹
10	EVC	EvC Ciliary Complex Subunit 1	Protein Coding	21.37	Novoseek inferred ⁵⁵	10700184 17392984
11	EVC2	EvC Ciliary Complex Subunit 2	Protein Coding	21.21	Novoseek inferred ⁵⁵	17392984
12	BMP4	Bone Morphogenetic Protein 4	Protein Coding	15.73	Novoseek inferred ⁵⁵	15581864 10964473

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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 21)

#	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	GLI3, 1-BP DEL, 2372C	deletion	Pathogenic
4	GLI3	GLI3, CODON 764, FS	undetermined variant	Pathogenic
5	GLI3	GLI3, 1-BP DEL, 3707G	deletion	Pathogenic
6	GLI3	NM_000168.5(GLI3): c.1927C> T (p.Arg643Ter)	single nucleotide variant	Pathogenic	rs121917709	GRCh37	Chromosome 7, 42012112: 42012112
7	GLI3	NM_000168.5(GLI3): c.1927C> T (p.Arg643Ter)	single nucleotide variant	Pathogenic	rs121917709	GRCh38	Chromosome 7, 41972513: 41972513
8	GLI3	NM_000168.5(GLI3): c.2179G> A (p.Gly727Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs121917710	GRCh37	Chromosome 7, 42007446: 42007446
9	GLI3	NM_000168.5(GLI3): c.2179G> A (p.Gly727Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs121917710	GRCh38	Chromosome 7, 41967848: 41967848
10	GLI3	NM_000168.5(GLI3): c.1616_1617delGA (p.Arg539Thrfs)	deletion	Pathogenic	rs398122899	GRCh37	Chromosome 7, 42018228: 42018229
11	GLI3	NM_000168.5(GLI3): c.1616_1617delGA (p.Arg539Thrfs)	deletion	Pathogenic	rs398122899	GRCh38	Chromosome 7, 41978629: 41978630
12	CC2D2A	NM_001080522.2(CC2D2A): c.4179+1delG (p.Gly1394Valfs)	deletion	Pathogenic	rs386833760	GRCh37	Chromosome 4, 15589553: 15589553
13	CC2D2A	NM_001080522.2(CC2D2A): c.4179+1delG (p.Gly1394Valfs)	deletion	Pathogenic	rs386833760	GRCh38	Chromosome 4, 15587930: 15587930
14	GLI3	NM_000168.5(GLI3): c.2252delA (p.Asp751Alafs)	deletion	Pathogenic	rs1057518698	GRCh38	Chromosome 7, 41967775: 41967775
15	GLI3	NM_000168.5(GLI3): c.2252delA (p.Asp751Alafs)	deletion	Pathogenic	rs1057518698	GRCh37	Chromosome 7, 42007373: 42007373
16	GLI3	NM_000168.5(GLI3): c.3635delG (p.Gly1212Alafs)	deletion	Pathogenic	rs1060499558	GRCh37	Chromosome 7, 42005036: 42005036
17	GLI3	NM_000168.5(GLI3): c.3635delG (p.Gly1212Alafs)	deletion	Pathogenic	rs1060499558	GRCh38	Chromosome 7, 41965438: 41965438
18	CC2D2A	NM_001080522.2(CC2D2A): c.1149+1G> A	single nucleotide variant	Pathogenic		GRCh37	Chromosome 4, 15518380: 15518380
19	CC2D2A	NM_001080522.2(CC2D2A): c.1149+1G> A	single nucleotide variant	Pathogenic		GRCh38	Chromosome 4, 15516757: 15516757
20	OFD1	NM_003611.2(OFD1): c.1999G> A (p.Ala667Thr)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome X, 13760459: 13760459
21	OFD1	NM_003611.2(OFD1): c.1999G> A (p.Ala667Thr)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome X, 13778578: 13778578

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Expression for Polydactyly, Postaxial, Type A1

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

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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

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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	9.43	BBS12 CC2D2A EVC EVC2 GLI3 IQCE
2	ciliary membrane	GO:0060170	9.33	EVC EVC2 IQCE
3	plasma membrane protein complex	GO:0098797	9.26	EVC EVC2
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	9.69	BMP4 CC2D2A GLI3
2	positive regulation of osteoblast differentiation	GO:0045669	9.58	BMP4 GLI3
3	embryonic digit morphogenesis	GO:0042733	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	9.49	BMP4 GLI3
9	metanephros development	GO:0001656	9.48	BMP4 GLI3
10	neuron fate commitment	GO:0048663	9.46	BMP4 GLI3
11	telencephalon development	GO:0021537	9.43	BMP4 GLI3
12	branching morphogenesis of an epithelial tube	GO:0048754	9.4	BMP4 GLI3
13	anatomical structure formation involved in morphogenesis	GO:0048646	9.37	BMP4 GLI3
14	limb morphogenesis	GO:0035108	9.32	GLI3 ZNF141
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

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Sources for Polydactyly, Postaxial, Type A1

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³³ ICD10

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³⁶ IUPHAR

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⁴¹ MalaCards

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⁵⁵ Novoseek

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⁵⁷ OMIM

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⁵⁹ Orphanet

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⁶¹ PharmGKB

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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

Polydactyly, Postaxial, Type A1 (PAPA1)

Aliases & Classifications for Polydactyly, Postaxial, Type A1

MalaCards integrated aliases for Polydactyly, Postaxial, Type A1:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Polydactyly, Postaxial, Type A1

Related Diseases for Polydactyly, Postaxial, Type A1

Diseases in the Polydactyly, Postaxial, Type A1 family:

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

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

Symptoms & Phenotypes for Polydactyly, Postaxial, Type A1

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Polydactyly, Postaxial, Type A1:

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

Drugs & Therapeutics for Polydactyly, Postaxial, Type A1

Genetic Tests for Polydactyly, Postaxial, Type A1

Anatomical Context for Polydactyly, Postaxial, Type A1

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

Publications for Polydactyly, Postaxial, Type A1

Articles related to Polydactyly, Postaxial, Type A1:

Genes for Polydactyly, Postaxial, Type A1

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

Variations for Polydactyly, Postaxial, Type A1

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

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

Expression for Polydactyly, Postaxial, Type A1

Pathways for Polydactyly, Postaxial, Type A1

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

GO Terms for Polydactyly, Postaxial, Type A1

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

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

Sources for Polydactyly, Postaxial, Type A1