Fanconi Anemia, Complementation Group P disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Fanconi Anemia, Complementation Group P

MalaCards integrated aliases for Fanconi Anemia, Complementation Group P:

Name: Fanconi Anemia, Complementation Group P ⁵⁷ ²⁹ ¹³ ⁶ ⁴⁰ ⁷³

Fanconi Anemia Complementation Group P ¹² ⁷⁵ ¹⁵

Fancp ⁵⁷ ¹² ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
highly variable severity
six patients have been reported (5/18/2011)

HPO:

³²

fanconi anemia, complementation group p:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Blood diseases Skin diseases Bone diseases Nephrological diseases Immune diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 613951

Disease Ontology ¹² DOID:0111092

MedGen ⁴² C3469542 CN077628

MeSH ⁴⁴ D005199

UMLS ⁷³ C3469542

Sources

Summaries for Fanconi Anemia, Complementation Group P

UniProtKB/Swiss-Prot : ⁷⁵ Fanconi anemia complementation group P: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. Some individuals affected by Fanconi anemia of complementation group P have skeletal anomalies.

MalaCards based summary : Fanconi Anemia, Complementation Group P, also known as fanconi anemia complementation group p, is related to fanconi anemia, complementation group a and maternal uniparental disomy of chromosome 16. An important gene associated with Fanconi Anemia, Complementation Group P is SLX4 (SLX4 Structure-Specific Endonuclease Subunit), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Homologous DNA Pairing and Strand Exchange. Affiliated tissues include bone, bone marrow and kidney, and related phenotypes are hearing impairment and microcephaly

Disease Ontology : ¹² A Fanconi anemia characterized by increased chromosomal instability, progressive bone marrow failure and in some cases skeletal abnormalities that has material basis in homozygous or compound heterozygous mutation in the SLX4 gene on chromosome 16p13.3.

OMIM : ⁵⁷ Fanconi anemia of complementation group P is an autosomal recessive disorder characterized by increased chromosomal instability and progressive bone marrow failure. Some patients have skeletal anomalies (summary by Kim et al., 2011). For a general description and a discussion of genetic heterogeneity of Fanconi anemia (FA), see 227650. (613951)

Sources

Related Diseases for Fanconi Anemia, Complementation Group P

Diseases in the Fanconi Anemia, Complementation Group a family:

Fanconi Anemia, Complementation Group I	Fanconi Anemia, Complementation Group J
Fanconi Anemia, Complementation Group N	Fanconi Anemia, Complementation Group O
Fanconi Anemia, Complementation Group P	Fanconi Anemia, Complementation Group L
Fanconi Anemia, Complementation Group Q	Fanconi Anemia, Complementation Group T
Fanconi Anemia, Complementation Group V	Fanconi Anemia, Complementation Group R
Fanconi Anemia, Complementation Group U	Fanconi Anemia, Complementation Group W
Fanconi Anemia, Complementation Group S

Diseases related to Fanconi Anemia, Complementation Group P via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	fanconi anemia, complementation group a	29.4	DCLRE1A FANCA FANCM MUS81 SLX4
2	maternal uniparental disomy of chromosome 16	10.0	FANCA SLX4
3	xeroderma pigmentosum, complementation group f	9.8	EME1 MUS81 SLX4
4	fanconi anemia, complementation group j	9.8	FANCA FANCM
5	fanconi anemia, complementation group q	9.8	FANCA FANCM SLX4
6	fanconi anemia, complementation group t	9.8	FANCA FANCM
7	congenital hypoplastic anemia	9.7	FANCA FANCM SLX4

Graphical network of the top 20 diseases related to Fanconi Anemia, Complementation Group P:

Sources

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group P

Symptoms via clinical synopsis from OMIM:

⁵⁷

Growth Height:
short stature

Growth Other:
growth retardation

Genitourinary Internal Genitalia Male:
cryptorchidism (1 patient)

Head And Neck Head:
microcephaly (1 patient)

Head And Neck Face:
micrognathia (1 patient)

Genitourinary Kidneys:
pelvic kidney (1 patient)
horseshoe kidney (1 patient)

Skeletal Hands:
hypoplastic thumbs (1 patient)
absent thumbs (1 patient)

Hematology:
anemia
pancytopenia (4 patients)
thrombocytopenia, isolated (1 patient)

Skin Nails Hair Skin:
cafe-au-lait spots
hypopigmentation spots
vitiligo (1 patient)

Head And Neck Nose:
bulbous nasal tip (1 patient)

Head And Neck Ears:
hearing loss (1 patient)
hypoplastic malleus (1 patient)
narrow external ear canals (1 patient)
malformed auricle (1 patient)

Head And Neck Eyes:
almond-shaped eyes (1 patient)
short palpebral fissures (1 patient)

Skeletal Limbs:
radial hypoplasia (1 patient)

Neoplasia:
squamous cell carcinoma (1 patient)

Clinical features from OMIM:

613951

Human phenotypes related to Fanconi Anemia, Complementation Group P:

³² (show all 18)

#	Description	HPO Frequency	HPO Source Accession
1	hearing impairment ³²	occasional (7.5%)	HP:0000365
2	microcephaly ³²	occasional (7.5%)	HP:0000252
3	short stature ³²		HP:0004322
4	anemia ³²		HP:0001903
5	micrognathia ³²	occasional (7.5%)	HP:0000347
6	pancytopenia ³²		HP:0001876
7	cryptorchidism ³²	occasional (7.5%)	HP:0000028
8	horseshoe kidney ³²	occasional (7.5%)	HP:0000085
9	vitiligo ³²	occasional (7.5%)	HP:0001045
10	bulbous nose ³²	occasional (7.5%)	HP:0000414
11	pelvic kidney ³²	occasional (7.5%)	HP:0000125
12	blepharophimosis ³²	occasional (7.5%)	HP:0000581
13	hypoplasia of the radius ³²	occasional (7.5%)	HP:0002984
14	squamous cell carcinoma ³²	occasional (7.5%)	HP:0002860
15	short palpebral fissure ³²	occasional (7.5%)	HP:0012745
16	cafe-au-lait spot ³²		HP:0000957
17	short thumb ³²	occasional (7.5%)	HP:0009778
18	absent thumb ³²	occasional (7.5%)	HP:0009777

GenomeRNAi Phenotypes related to Fanconi Anemia, Complementation Group P according to GeneCards Suite gene sharing:

²⁶ (show all 12)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased shRNA abundance (Z-score < -2)	GR00366-A-116	9.85	EME1
2	Decreased shRNA abundance (Z-score < -2)	GR00366-A-119	9.85	GEN1
3	Decreased shRNA abundance (Z-score < -2)	GR00366-A-139	9.85	EME1
4	Decreased shRNA abundance (Z-score < -2)	GR00366-A-144	9.85	EME1 GEN1
5	Decreased shRNA abundance (Z-score < -2)	GR00366-A-203	9.85	EME1
6	Decreased shRNA abundance (Z-score < -2)	GR00366-A-216	9.85	EME1
7	Decreased shRNA abundance (Z-score < -2)	GR00366-A-26	9.85	GEN1
8	Decreased shRNA abundance (Z-score < -2)	GR00366-A-75	9.85	GEN1
9	Decreased shRNA abundance (Z-score < -2)	GR00366-A-87	9.85	EME1
10	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-1	9.55	DCLRE1A EME1 FANCA FANCM
11	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-2	9.55	DCLRE1A EME1 FANCA FANCM MUS81
12	Increased viability with MLN4924 (a NAE inhibitor)	GR00250-A-3	9.43	DCLRE1A EME1 FANCA FANCM GEN1 MUS81

MGI Mouse Phenotypes related to Fanconi Anemia, Complementation Group P:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	neoplasm	MP:0002006	8.92	DCLRE1A FANCA FANCM MUS81

Sources

Drugs & Therapeutics for Fanconi Anemia, Complementation Group P

Search Clinical Trials , NIH Clinical Center for Fanconi Anemia, Complementation Group P

Sources

Genetic Tests for Fanconi Anemia, Complementation Group P

Genetic tests related to Fanconi Anemia, Complementation Group P:

#	Genetic test	Affiliating Genes
1	Fanconi Anemia, Complementation Group P ²⁹	SLX4

Sources

Anatomical Context for Fanconi Anemia, Complementation Group P

MalaCards organs/tissues related to Fanconi Anemia, Complementation Group P:

⁴¹

Bone, Bone Marrow, Kidney, Skin, Eye

Sources

Publications for Fanconi Anemia, Complementation Group P

Sources

Genes for Fanconi Anemia, Complementation Group P

Genes related to Fanconi Anemia, Complementation Group P (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SLX4	SLX4 Structure-Specific Endonuclease Subunit	Protein Coding	1047.62	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Gene name Variants (show sections)	21240277 20301575 20301753 (more) 21240275
2	DCLRE1A	DNA Cross-Link Repair 1A	Protein Coding	16.68	DISEASES inferred ¹⁵
3	MUS81	MUS81 Structure-Specific Endonuclease Subunit	Protein Coding	16.66	DISEASES inferred ¹⁵
4	EME1	Essential Meiotic Structure-Specific Endonuclease 1	Protein Coding	16.47	DISEASES inferred ¹⁵
5	FANCM	FA Complementation Group M	Protein Coding	16.06	DISEASES inferred ¹⁵
6	GEN1	GEN1, Holliday Junction 5' Flap Endonuclease	Protein Coding	16.01	DISEASES inferred ¹⁵
7	FANCA	FA Complementation Group A	Protein Coding	15.8	DISEASES inferred ¹⁵

Sources

Variations for Fanconi Anemia, Complementation Group P

ClinVar genetic disease variations for Fanconi Anemia, Complementation Group P:

⁶ (show all 12)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	SLX4	SLX4, 1-BP DEL, 286A	deletion	Pathogenic
2	SLX4	SLX4, 1-BP DEL, 1093C	deletion	Pathogenic
3	SLX4	SLX4, IVS5DS, 1-BP DUP, T, +3	duplication	Pathogenic
4	SLX4	SLX4, IVS5DS, T-A, +2	single nucleotide variant	Pathogenic
5	SLX4	SLX4, 1-BP DEL, 514C	deletion	Pathogenic
6	SLX4	SLX4, 4,890-BP DEL/2-BP INS	indel	Pathogenic
7	SLX4	NM_032444.3(SLX4): c.3365C> T (p.Pro1122Leu)	single nucleotide variant	Benign	rs714181	GRCh38	Chromosome 16, 3590273: 3590273
8	SLX4	NM_032444.3(SLX4): c.3365C> T (p.Pro1122Leu)	single nucleotide variant	Benign	rs714181	GRCh37	Chromosome 16, 3640274: 3640274
9	SLX4	NM_032444.3(SLX4): c.2975G> A (p.Gly992Glu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs139287784	GRCh38	Chromosome 16, 3590663: 3590663
10	SLX4	NM_032444.3(SLX4): c.2975G> A (p.Gly992Glu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs139287784	GRCh37	Chromosome 16, 3640664: 3640664
11	SLX4	NM_032444.3(SLX4): c.3136C> T (p.Arg1046Cys)	single nucleotide variant	Uncertain significance	rs140529288	GRCh37	Chromosome 16, 3640503: 3640503
12	SLX4	NM_032444.3(SLX4): c.3136C> T (p.Arg1046Cys)	single nucleotide variant	Uncertain significance	rs140529288	GRCh38	Chromosome 16, 3590502: 3590502

Sources

Expression for Fanconi Anemia, Complementation Group P

Search GEO for disease gene expression data for Fanconi Anemia, Complementation Group P.

Sources

Pathways for Fanconi Anemia, Complementation Group P

Pathways related to Fanconi Anemia, Complementation Group P according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	DNA Double-Strand Break Repair ⁶⁶ Show member pathways Chk1/Chk2(Cds1) mediated inactivation of Cyclin B-Cdk1 complex ⁶⁶ DNA damage_DNA-damage-induced responses ²² DNA Repair ⁶⁶ G2/M DNA damage checkpoint ⁶⁶ HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA) ⁶⁶ HDR through MMEJ (alt-NHEJ) ⁶⁶ Homology Directed Repair ⁶⁶ Non-homologous end joining ¹ Non-homologous end-joining ³⁷ Processing of DNA double-strand break ends ⁶⁶	12.5	DCLRE1A EME1 FANCA FANCM GEN1 MUS81
2	Homologous DNA Pairing and Strand Exchange ⁶⁶ Show member pathways ATR Signaling ¹ HDR through Homologous Recombination (HRR) ⁶⁶ HDR through Single Strand Annealing (SSA) ⁶⁶ Presynaptic phase of homologous DNA pairing and strand exchange ⁶⁶	11.86	EME1 GEN1 MUS81 SLX4
3	Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) ⁶⁶ Show member pathways Homologous recombination ³⁷ Homologous recombination ¹ Resolution of D-Loop Structures ⁶⁶ Resolution of D-loop Structures through Holliday Junction Intermediates ⁶⁶	11.64	EME1 GEN1 MUS81 SLX4
4	Fanconi anemia pathway ³⁷ ⁶⁶	11.07	DCLRE1A EME1 FANCA FANCM MUS81 SLX4

Sources

GO Terms for Fanconi Anemia, Complementation Group P

Cellular components related to Fanconi Anemia, Complementation Group P according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleus	GO:0005634	9.8	DCLRE1A EME1 FANCA FANCM GEN1 MUS81
2	nucleoplasm	GO:0005654	9.5	DCLRE1A EME1 FANCA FANCM GEN1 MUS81
3	nuclear chromosome, telomeric region	GO:0000784	9.32	DCLRE1A SLX4
4	Fanconi anaemia nuclear complex	GO:0043240	9.16	FANCA FANCM
5	Holliday junction resolvase complex	GO:0048476	8.8	EME1 MUS81 SLX4

Biological processes related to Fanconi Anemia, Complementation Group P according to GeneCards Suite gene sharing:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleic acid phosphodiester bond hydrolysis	GO:0090305	9.72	DCLRE1A EME1 FANCM GEN1 MUS81
2	cellular response to DNA damage stimulus	GO:0006974	9.7	DCLRE1A EME1 FANCA FANCM GEN1 MUS81
3	DNA recombination	GO:0006310	9.61	EME1 MUS81 SLX4
4	replication fork processing	GO:0031297	9.58	EME1 FANCM GEN1
5	resolution of meiotic recombination intermediates	GO:0000712	9.56	EME1 FANCM MUS81 SLX4
6	response to intra-S DNA damage checkpoint signaling	GO:0072429	9.54	EME1 MUS81 SLX4
7	DNA repair	GO:0006281	9.5	DCLRE1A EME1 FANCA FANCM GEN1 MUS81
8	double-strand break repair via homologous recombination	GO:0000724	9.49	GEN1 SLX4
9	intra-S DNA damage checkpoint	GO:0031573	9.48	EME1 MUS81
10	DNA catabolic process, endonucleolytic	GO:0000737	9.46	GEN1 MUS81
11	interstrand cross-link repair	GO:0036297	9.1	DCLRE1A EME1 FANCA FANCM MUS81 SLX4

Molecular functions related to Fanconi Anemia, Complementation Group P according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	hydrolase activity	GO:0016787	9.71	EME1 FANCM GEN1 MUS81
2	endonuclease activity	GO:0004519	9.5	EME1 GEN1 MUS81
3	nuclease activity	GO:0004518	9.46	EME1 FANCM GEN1 MUS81
4	5'-flap endonuclease activity	GO:0017108	9.37	GEN1 SLX4
5	3'-flap endonuclease activity	GO:0048257	9.26	MUS81 SLX4
6	endodeoxyribonuclease activity	GO:0004520	9.26	EME1 GEN1 MUS81 SLX4
7	crossover junction endodeoxyribonuclease activity	GO:0008821	8.92	EME1 GEN1 MUS81 SLX4

Sources

Sources for Fanconi Anemia, Complementation Group P

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

Fanconi Anemia, Complementation Group P (FANCP)

Aliases & Classifications for Fanconi Anemia, Complementation Group P

MalaCards integrated aliases for Fanconi Anemia, Complementation Group P:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Fanconi Anemia, Complementation Group P

Related Diseases for Fanconi Anemia, Complementation Group P

Diseases in the Fanconi Anemia, Complementation Group a family:

Diseases related to Fanconi Anemia, Complementation Group P via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Fanconi Anemia, Complementation Group P:

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group P

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Fanconi Anemia, Complementation Group P:

GenomeRNAi Phenotypes related to Fanconi Anemia, Complementation Group P according to GeneCards Suite gene sharing:

MGI Mouse Phenotypes related to Fanconi Anemia, Complementation Group P:

Drugs & Therapeutics for Fanconi Anemia, Complementation Group P

Genetic Tests for Fanconi Anemia, Complementation Group P

Genetic tests related to Fanconi Anemia, Complementation Group P:

Anatomical Context for Fanconi Anemia, Complementation Group P

MalaCards organs/tissues related to Fanconi Anemia, Complementation Group P:

Publications for Fanconi Anemia, Complementation Group P

Genes for Fanconi Anemia, Complementation Group P

Genes related to Fanconi Anemia, Complementation Group P (1 elite genes):

Variations for Fanconi Anemia, Complementation Group P

ClinVar genetic disease variations for Fanconi Anemia, Complementation Group P:

Expression for Fanconi Anemia, Complementation Group P

Pathways for Fanconi Anemia, Complementation Group P

Pathways related to Fanconi Anemia, Complementation Group P according to GeneCards Suite gene sharing:

GO Terms for Fanconi Anemia, Complementation Group P

Cellular components related to Fanconi Anemia, Complementation Group P according to GeneCards Suite gene sharing:

Biological processes related to Fanconi Anemia, Complementation Group P according to GeneCards Suite gene sharing:

Molecular functions related to Fanconi Anemia, Complementation Group P according to GeneCards Suite gene sharing:

Sources for Fanconi Anemia, Complementation Group P