Sc Phocomelia Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SCPS MCID: SCP001 MIFTS: 40	Sc Phocomelia Syndrome (SCPS) Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Sc Phocomelia Syndrome

MalaCards integrated aliases for Sc Phocomelia Syndrome:

Name: Sc Phocomelia Syndrome ⁵⁷ ¹² ⁷⁵ ¹³ ¹⁵ ⁴⁰

Sc Pseudothalidomide Syndrome ⁵⁷ ¹² ⁷⁵

Hypomelia Hypotrichosis Facial Hemangioma Syndrome ¹²

Roberts-Sc Phocomelia Syndrome ⁷³

Scps ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
allelic to roberts syndrome

HPO:

³²

sc phocomelia syndrome:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Bone diseases Neuronal diseases Blood diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 269000

Disease Ontology ¹² DOID:0050536

MedGen ⁴² C0392475

UMLS ⁷³ C0392475

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Summaries for Sc Phocomelia Syndrome

UniProtKB/Swiss-Prot : ⁷⁵ SC phocomelia syndrome: Has a milder phenotype than RBS, with a lesser degree of symmetric limb reduction and additionally includes flexion contractures of various joints, midfacial hemangioma, hypoplastic cartilage of ears and nose, scant silvery-blond hair, and cloudy corneae. Although microcephaly is present, mental retardation may be mild and survival into adulthood is common.

MalaCards based summary : Sc Phocomelia Syndrome, also known as sc pseudothalidomide syndrome, is related to roberts syndrome and phocomelia, and has symptoms including seizures An important gene associated with Sc Phocomelia Syndrome is ESCO2 (Establishment Of Sister Chromatid Cohesion N-Acetyltransferase 2), and among its related pathways/superpathways are Cell Cycle, Mitotic and Cell cycle_Spindle assembly and chromosome separation. Affiliated tissues include bone, and related phenotypes are clinodactyly and seizures

Disease Ontology : ¹² An autosomal recessive disease that is characterized by severe prenatal growth retardation resulting in malformation of the bones in the skull, face and limbs, has material basis in the mutation in the ESCO2 gene.

Description from OMIM: 269000

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Related Diseases for Sc Phocomelia Syndrome

Diseases in the Phocomelia family:

Dk Phocomelia Syndrome

Sc Phocomelia Syndrome

Diseases related to Sc Phocomelia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)

#	Related Disease	Score	Top Affiliating Genes
1	roberts syndrome	32.9	ESCO2 NIPBL SMC3
2	phocomelia	31.2	CCDC25 ESCO2
3	hemangioma	10.1
4	melanoma	10.1
5	cranial nerve palsy	10.1
6	hypotrichosis	10.1
7	exencephaly	10.1
8	alzheimer disease	10.0
9	renal cell carcinoma, nonpapillary	10.0
10	hypoxia	10.0
11	pain - chronic	10.0
12	wiedemann-steiner syndrome	10.0	SMC1A SMC3
13	intraocular retinoblastoma	9.9	ESCO2 SATB2
14	cloacal exstrophy	9.8	AFP SATB2
15	hydrolethalus syndrome 1	9.8	AFP SATB2
16	physical disorder	9.7	AFP SATB2
17	cornelia de lange syndrome	9.6	ESCO2 NIPBL SMC1A SMC3

Graphical network of the top 20 diseases related to Sc Phocomelia Syndrome:

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Symptoms & Phenotypes for Sc Phocomelia Syndrome

Symptoms via clinical synopsis from OMIM:

⁵⁷

Skeletal Hands:
clinodactyly
small thumbs

Head And Neck Head:
microcephaly

Head And Neck Face:
micrognathia

Growth Other:
intrauterine growth retardation

Head And Neck Ears:
posteriorly rotated ears
absent lobules

Head And Neck Mouth:
cleft lip

Skeletal Limbs:
knee contractures
absence of radius and ulna

Skeletal Pelvis:
hip contractures

Laboratory Abnormalities:
premature separation of centromeric heterochromatin

Neurologic Central Nervous System:
seizures
developmental delay

Growth Height:
short stature

Skeletal Skull:
wormian bones

Skin Nails Hair Hair:
sparse hair
silvery-blond hair

Skin Nails Hair Skin:
midface capillary hemangioma

Cardiovascular Heart:
aortic stenosis

Head And Neck Nose:
hypoplastic nasal alae

Head And Neck Eyes:
bluish sclerae

Clinical features from OMIM:

269000

Human phenotypes related to Sc Phocomelia Syndrome:

³² (show all 24)

#	Description	HPO Source Accession
1	clinodactyly ³²	HP:0030084
2	seizures ³²	HP:0001250
3	global developmental delay ³²	HP:0001263
4	microcephaly ³²	HP:0000252
5	short stature ³²	HP:0004322
6	micrognathia ³²	HP:0000347
7	wormian bones ³²	HP:0002645
8	intrauterine growth retardation ³²	HP:0001511
9	underdeveloped nasal alae ³²	HP:0000430
10	cleft upper lip ³²	HP:0000204
11	hip contracture ³²	HP:0003273
12	blue sclerae ³²	HP:0000592
13	sparse hair ³²	HP:0008070
14	aortic valve stenosis ³²	HP:0001650
15	phocomelia ³²	HP:0009829
16	knee flexion contracture ³²	HP:0006380
17	absent radius ³²	HP:0003974
18	posteriorly rotated ears ³²	HP:0000358
19	midface capillary hemangioma ³²	HP:0007452
20	radial deviation of finger ³²	HP:0009466
21	short thumb ³²	HP:0009778
22	fair hair ³²	HP:0002286
23	premature separation of centromeric heterochromatin ³²	HP:0003616
24	aplasia of the ulna ³²	HP:0003982

UMLS symptoms related to Sc Phocomelia Syndrome:

seizures

MGI Mouse Phenotypes related to Sc Phocomelia Syndrome:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	mortality/aging	MP:0010768	9.1	AFP ESCO2 NIPBL SATB2 SMC1A SMC3

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Drugs & Therapeutics for Sc Phocomelia Syndrome

Search Clinical Trials , NIH Clinical Center for Sc Phocomelia Syndrome

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Genetic Tests for Sc Phocomelia Syndrome

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Anatomical Context for Sc Phocomelia Syndrome

MalaCards organs/tissues related to Sc Phocomelia Syndrome:

⁴¹

Bone

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Publications for Sc Phocomelia Syndrome

Articles related to Sc Phocomelia Syndrome:

(show all 19)

#	Title	Authors	Year
1	Roberts-SC Phocomelia Syndrome (Pseudothalidomide Syndrome): A Case Report. ( 24971102 )		2013
2	Spontaneous intracranial hemorrhage and multiple intracranial aneurysms in a patient with Roberts/SC phocomelia syndrome. ( 22044369 )	Wang AC...Maher CO	2011
3	Roberts-SC phocomelia syndrome. ( 11450388 )	Maheshwari A....Narang A.	2001
4	Picture of the month. Roberts-SC phocomelia syndrome. ( 8646318 )	Lopez-Allen G....Tunnessen W.W.	1996
5	A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limbs. ( 8832138 )	Concolino D....Andria G.	1996
6	Possible genetic heterogeneity in the Roberts-SC phocomelia syndrome. ( 7558058 )	Sabry M.A.	1995
7	Roberts-SC phocomelia syndrome: a case with additional anomalies. ( 8004795 )	Satar M....Tunali N.	1994
8	Roberts-SC phocomelia syndrome in a baboon (Papio anubis). ( 1460857 )	Kovacs MS...Bennett BT	1992
9	Prenatal sonographic features and management of a fetus with Roberts-SC phocomelia syndrome (pseudothalidomide syndrome) and pulmonary hypoplasia. ( 1741870 )		1991
10	A sibship with Roberts/SC phocomelia syndrome. ( 2240038 )		1990
11	Roberts-SC phocomelia syndrome with exencephaly. ( 2817778 )	Verloes A....Dodinval P.	1989
12	Prenatal detection of Roberts-SC phocomelia syndrome: report of 2 sibs with characteristic manifestations. ( 2658590 )	Robins D.B....Zackai E.H.	1989
13	SC phocomelia syndrome, premature centromere separation, and congenital cranial nerve paralysis in two sisters, one with malignant melanoma. ( 3740099 )	Parry D.M....Cowan J.M.	1986
14	Chromatid repulsion associated with Roberts/SC phocomelia syndrome is reduced in malignant cells and not expressed in interspecies somatic-cell hybrids. ( 3788975 )	Krassikoff N.E....Francke U.	1986
15	Roberts'--SC phocomelia syndrome with cytogenetic findings. ( 7106776 )	Leonard P....Skardoon L.	1982
16	A case of SC-phocomelia syndrome with nonrandom centromere separation. ( 7163280 )	BAPkesoy I....BilgiAs S.	1982
17	Cytogenetic findings in Roberts-SC phocomelia syndrome(s). ( 495649 )	Tomkins D....Roberts M.	1979
18	The SC phocomelia syndrome: report of two cases with cytogenetic abnormality. ( 517578 )	Qazi Q.H....Choi S.J.	1979
19	Hypomelia-hypotrichosis-facial hemangioma syndrome (pseudothalidomide, SC syndrome, SC phocomelia syndrome). ( 5033248 )	Hall B.D....Greenberg M.H.	1972

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Genes for Sc Phocomelia Syndrome

Genes related to Sc Phocomelia Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	ESCO2	Establishment Of Sister Chromatid Cohesion N-Acetyltransferase 2	Protein Coding	947.24	Molecular basis known ⁵⁷ Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
2	SMC3	Structural Maintenance Of Chromosomes 3	Protein Coding	16.14	DISEASES inferred ¹⁵
3	SMC1A	Structural Maintenance Of Chromosomes 1A	Protein Coding	16.04	DISEASES inferred ¹⁵
4	NIPBL	NIPBL, Cohesin Loading Factor	Protein Coding	15.93	DISEASES inferred ¹⁵
5	SATB2	SATB Homeobox 2	Protein Coding	13.61	DISEASES inferred ¹⁵
6	AFP	Alpha Fetoprotein	Protein Coding	13.39	DISEASES inferred ¹⁵
7	CCDC25	Coiled-Coil Domain Containing 25	Protein Coding	8.44	GeneCards inferred via : Variants (show sections)

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Variations for Sc Phocomelia Syndrome

ClinVar genetic disease variations for Sc Phocomelia Syndrome:

⁶ (show top 50) (show all 164)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ESCO2	NM_001017420.2(ESCO2): c.1615T> G (p.Trp539Gly)	single nucleotide variant	Pathogenic	rs80359868	GRCh37	Chromosome 8, 27657175: 27657175
2	ESCO2	NM_001017420.2(ESCO2): c.1615T> G (p.Trp539Gly)	single nucleotide variant	Pathogenic	rs80359868	GRCh38	Chromosome 8, 27799658: 27799658
3	ESCO2	NM_001017420.2(ESCO2): c.505C> T (p.Arg169Ter)	single nucleotide variant	Pathogenic	rs80359849	GRCh37	Chromosome 8, 27634330: 27634330
4	ESCO2	NM_001017420.2(ESCO2): c.505C> T (p.Arg169Ter)	single nucleotide variant	Pathogenic	rs80359849	GRCh38	Chromosome 8, 27776813: 27776813
5	ESCO2	NM_001017420.2(ESCO2): c.751dupG (p.Glu251Glyfs)	duplication	Pathogenic	rs80359852	GRCh37	Chromosome 8, 27634576: 27634576
6	ESCO2	NM_001017420.2(ESCO2): c.751dupG (p.Glu251Glyfs)	duplication	Pathogenic	rs80359852	GRCh38	Chromosome 8, 27777059: 27777059
7	ESCO2	NM_001017420.2(ESCO2): c.760dupA (p.Thr254Asnfs)	duplication	Pathogenic	rs80359853	GRCh37	Chromosome 8, 27634585: 27634585
8	ESCO2	NM_001017420.2(ESCO2): c.760dupA (p.Thr254Asnfs)	duplication	Pathogenic	rs80359853	GRCh38	Chromosome 8, 27777068: 27777068
9	ESCO2	NM_001017420.2(ESCO2): c.1269G> A (p.Trp423Ter)	single nucleotide variant	Pathogenic	rs80359864	GRCh37	Chromosome 8, 27649485: 27649485
10	ESCO2	NM_001017420.2(ESCO2): c.1269G> A (p.Trp423Ter)	single nucleotide variant	Pathogenic	rs80359864	GRCh38	Chromosome 8, 27791968: 27791968
11	ESCO2	NM_001017420.2(ESCO2): c.604C> T (p.Gln202Ter)	single nucleotide variant	Pathogenic	rs80359850	GRCh37	Chromosome 8, 27634429: 27634429
12	ESCO2	NM_001017420.2(ESCO2): c.604C> T (p.Gln202Ter)	single nucleotide variant	Pathogenic	rs80359850	GRCh38	Chromosome 8, 27776912: 27776912
13	ESCO2	NM_001017420.2(ESCO2): c.1111_1112insG (p.Thr371Serfs)	insertion	Pathogenic	rs80359859	GRCh37	Chromosome 8, 27645499: 27645500
14	ESCO2	NM_001017420.2(ESCO2): c.1111_1112insG (p.Thr371Serfs)	insertion	Pathogenic	rs80359859	GRCh38	Chromosome 8, 27787982: 27787983
15	ESCO2	NM_001017420.2(ESCO2): c.1111dupA (p.Thr371Asnfs)	duplication	Pathogenic	rs80359859	GRCh37	Chromosome 8, 27645499: 27645499
16	ESCO2	NM_001017420.2(ESCO2): c.1111dupA (p.Thr371Asnfs)	duplication	Pathogenic	rs80359859	GRCh38	Chromosome 8, 27787982: 27787982
17	ESCO2	NM_001017420.2(ESCO2): c.1131+1G> A	single nucleotide variant	Pathogenic	rs80359861	GRCh37	Chromosome 8, 27645520: 27645520
18	ESCO2	NM_001017420.2(ESCO2): c.1131+1G> A	single nucleotide variant	Pathogenic	rs80359861	GRCh38	Chromosome 8, 27788003: 27788003
19	ESCO2	NM_001017420.2(ESCO2): c.1132-7A> G	single nucleotide variant	Pathogenic/Likely pathogenic	rs80359862	GRCh37	Chromosome 8, 27646357: 27646357
20	ESCO2	NM_001017420.2(ESCO2): c.1132-7A> G	single nucleotide variant	Pathogenic/Likely pathogenic	rs80359862	GRCh38	Chromosome 8, 27788840: 27788840
21	ESCO2	NM_001017420.2(ESCO2): c.1263+1G> C	single nucleotide variant	Pathogenic	rs80359863	GRCh37	Chromosome 8, 27646496: 27646496
22	ESCO2	NM_001017420.2(ESCO2): c.1263+1G> C	single nucleotide variant	Pathogenic	rs80359863	GRCh38	Chromosome 8, 27788979: 27788979
23	ESCO2	NM_001017420.2(ESCO2): c.1354-18G> A	single nucleotide variant	Pathogenic	rs80359865	GRCh37	Chromosome 8, 27650167: 27650167
24	ESCO2	NM_001017420.2(ESCO2): c.1354-18G> A	single nucleotide variant	Pathogenic	rs80359865	GRCh38	Chromosome 8, 27792650: 27792650
25	ESCO2	NM_001017420.2(ESCO2): c.1461_1462delAG (p.Arg487Serfs)	deletion	Pathogenic	rs80359866	GRCh37	Chromosome 8, 27650292: 27650293
26	ESCO2	NM_001017420.2(ESCO2): c.1461_1462delAG (p.Arg487Serfs)	deletion	Pathogenic	rs80359866	GRCh38	Chromosome 8, 27792775: 27792776
27	ESCO2	NM_001017420.2(ESCO2): c.1597dupT (p.Cys533Leufs)	duplication	Pathogenic	rs80359867	GRCh37	Chromosome 8, 27657157: 27657157
28	ESCO2	NM_001017420.2(ESCO2): c.1597dupT (p.Cys533Leufs)	duplication	Pathogenic	rs80359867	GRCh38	Chromosome 8, 27799640: 27799640
29	ESCO2	NM_001017420.2(ESCO2): c.1674-2A> G	single nucleotide variant	Pathogenic	rs80359869	GRCh37	Chromosome 8, 27660821: 27660821
30	ESCO2	NM_001017420.2(ESCO2): c.1674-2A> G	single nucleotide variant	Pathogenic	rs80359869	GRCh38	Chromosome 8, 27803304: 27803304
31	ESCO2	NM_001017420.2(ESCO2): c.239C> T (p.Ala80Val)	single nucleotide variant	Benign/Likely benign	rs4732748	GRCh37	Chromosome 8, 27634064: 27634064
32	ESCO2	NM_001017420.2(ESCO2): c.239C> T (p.Ala80Val)	single nucleotide variant	Benign/Likely benign	rs4732748	GRCh38	Chromosome 8, 27776547: 27776547
33	ESCO2	NM_001017420.2(ESCO2): c.252_253delAT (p.Ser85Phefs)	deletion	Pathogenic	rs80359844	GRCh37	Chromosome 8, 27634077: 27634078
34	ESCO2	NM_001017420.2(ESCO2): c.252_253delAT (p.Ser85Phefs)	deletion	Pathogenic	rs80359844	GRCh38	Chromosome 8, 27776560: 27776561
35	ESCO2	NM_001017420.2(ESCO2): c.294_297delGAGA (p.Arg99Serfs)	deletion	Pathogenic	rs80359845	GRCh37	Chromosome 8, 27634119: 27634122
36	ESCO2	NM_001017420.2(ESCO2): c.294_297delGAGA (p.Arg99Serfs)	deletion	Pathogenic	rs80359845	GRCh38	Chromosome 8, 27776602: 27776605
37	ESCO2	NM_001017420.2(ESCO2): c.307_311delAAAGA (p.Lys103Glufs)	deletion	Pathogenic	rs80359846	GRCh37	Chromosome 8, 27634132: 27634136
38	ESCO2	NM_001017420.2(ESCO2): c.307_311delAAAGA (p.Lys103Glufs)	deletion	Pathogenic	rs80359846	GRCh38	Chromosome 8, 27776615: 27776619
39	ESCO2	NM_001017420.2(ESCO2): c.308_309delAA (p.Lys103Argfs)	deletion	Pathogenic	rs80359847	GRCh37	Chromosome 8, 27634133: 27634134
40	ESCO2	NM_001017420.2(ESCO2): c.308_309delAA (p.Lys103Argfs)	deletion	Pathogenic	rs80359847	GRCh38	Chromosome 8, 27776616: 27776617
41	ESCO2	NM_001017420.2(ESCO2): c.417dupA (p.Pro140Thrfs)	duplication	Pathogenic	rs80359848	GRCh37	Chromosome 8, 27634242: 27634242
42	ESCO2	NM_001017420.2(ESCO2): c.417dupA (p.Pro140Thrfs)	duplication	Pathogenic	rs80359848	GRCh38	Chromosome 8, 27776725: 27776725
43	ESCO2	NM_001017420.2(ESCO2): c.745_746delGT (p.Val249Glnfs)	deletion	Pathogenic	rs80359851	GRCh37	Chromosome 8, 27634570: 27634571
44	ESCO2	NM_001017420.2(ESCO2): c.745_746delGT (p.Val249Glnfs)	deletion	Pathogenic	rs80359851	GRCh38	Chromosome 8, 27777053: 27777054
45	ESCO2	NM_001017420.2(ESCO2): c.760delA (p.Thr254Leufs)	deletion	Pathogenic	rs80359854	GRCh37	Chromosome 8, 27634585: 27634585
46	ESCO2	NM_001017420.2(ESCO2): c.760delA (p.Thr254Leufs)	deletion	Pathogenic	rs80359854	GRCh38	Chromosome 8, 27777068: 27777068
47	ESCO2	NM_001017420.2(ESCO2): c.764_765delTT (p.Phe255Cysfs)	deletion	Pathogenic	rs80359855	GRCh37	Chromosome 8, 27634589: 27634590
48	ESCO2	NM_001017420.2(ESCO2): c.764_765delTT (p.Phe255Cysfs)	deletion	Pathogenic	rs80359855	GRCh38	Chromosome 8, 27777072: 27777073
49	ESCO2	NM_001017420.2(ESCO2): c.875_878delACAG (p.Asp292Glufs)	deletion	Pathogenic	rs80359856	GRCh37	Chromosome 8, 27637704: 27637707
50	ESCO2	NM_001017420.2(ESCO2): c.875_878delACAG (p.Asp292Glufs)	deletion	Pathogenic	rs80359856	GRCh38	Chromosome 8, 27780187: 27780190

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Expression for Sc Phocomelia Syndrome

Search GEO for disease gene expression data for Sc Phocomelia Syndrome.

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Pathways for Sc Phocomelia Syndrome

Pathways related to Sc Phocomelia Syndrome according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Cell Cycle, Mitotic ⁶⁶ Show member pathways Cell Cycle ⁶⁶ M Phase ⁶⁶	12.78	ESCO2 NIPBL SMC1A SMC3
2	Cell cycle_Spindle assembly and chromosome separation ²²	11.23	SMC1A SMC3
3	Retinoblastoma (RB) in Cancer ¹	11.1	SMC1A SMC3
4	ATM Pathway ⁶⁴ Show member pathways ATM Signaling Pathway ¹	10.9	SMC1A SMC3
5	Mitotic Telophase/Cytokinesis ⁶⁶ Show member pathways Cohesin Loading onto Chromatin ⁶⁶	10.21	NIPBL SMC1A SMC3

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GO Terms for Sc Phocomelia Syndrome

Cellular components related to Sc Phocomelia Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleoplasm	GO:0005654	9.83	ESCO2 NIPBL SATB2 SMC1A SMC3
2	chromosome	GO:0005694	9.56	ESCO2 NIPBL SMC1A SMC3
3	chromatin	GO:0000785	9.5	ESCO2 NIPBL SMC3
4	chromosome, centromeric region	GO:0000775	9.4	SMC1A SMC3
5	mitotic spindle pole	GO:0097431	9.37	SMC1A SMC3
6	nuclear matrix	GO:0016363	9.33	SATB2 SMC1A SMC3
7	cohesin complex	GO:0008278	8.96	SMC1A SMC3
8	meiotic cohesin complex	GO:0030893	8.62	SMC1A SMC3

Biological processes related to Sc Phocomelia Syndrome according to GeneCards Suite gene sharing:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	cell cycle	GO:0007049	9.67	ESCO2 NIPBL SMC1A SMC3
2	cellular response to DNA damage stimulus	GO:0006974	9.65	NIPBL SMC1A SMC3
3	meiotic cell cycle	GO:0051321	9.49	SMC1A SMC3
4	double-strand break repair	GO:0006302	9.46	ESCO2 NIPBL
5	chromosome organization	GO:0051276	9.43	SMC1A SMC3
6	regulation of mitotic spindle assembly	GO:1901673	9.4	SMC1A SMC3
7	regulation of DNA replication	GO:0006275	9.32	ESCO2 SMC3
8	mitotic sister chromatid cohesion	GO:0007064	9.26	NIPBL SMC1A
9	negative regulation of DNA endoreduplication	GO:0032876	9.16	SMC1A SMC3
10	stem cell population maintenance	GO:0019827	9.13	NIPBL SMC1A SMC3
11	sister chromatid cohesion	GO:0007062	8.8	ESCO2 SMC1A SMC3

Molecular functions related to Sc Phocomelia Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	chromatin binding	GO:0003682	9.26	NIPBL SATB2 SMC1A SMC3
2	mediator complex binding	GO:0036033	8.8	NIPBL SMC1A SMC3

Sources

Sources for Sc Phocomelia Syndrome

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

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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

Sc Phocomelia Syndrome (SCPS)

Aliases & Classifications for Sc Phocomelia Syndrome

MalaCards integrated aliases for Sc Phocomelia Syndrome:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Sc Phocomelia Syndrome

Related Diseases for Sc Phocomelia Syndrome

Diseases in the Phocomelia family:

Diseases related to Sc Phocomelia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Sc Phocomelia Syndrome:

Symptoms & Phenotypes for Sc Phocomelia Syndrome

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Sc Phocomelia Syndrome:

UMLS symptoms related to Sc Phocomelia Syndrome:

MGI Mouse Phenotypes related to Sc Phocomelia Syndrome:

Drugs & Therapeutics for Sc Phocomelia Syndrome

Genetic Tests for Sc Phocomelia Syndrome

Anatomical Context for Sc Phocomelia Syndrome

MalaCards organs/tissues related to Sc Phocomelia Syndrome:

Publications for Sc Phocomelia Syndrome

Articles related to Sc Phocomelia Syndrome:

Genes for Sc Phocomelia Syndrome

Genes related to Sc Phocomelia Syndrome (1 elite genes):

Variations for Sc Phocomelia Syndrome

ClinVar genetic disease variations for Sc Phocomelia Syndrome:

Expression for Sc Phocomelia Syndrome

Pathways for Sc Phocomelia Syndrome

Pathways related to Sc Phocomelia Syndrome according to GeneCards Suite gene sharing:

GO Terms for Sc Phocomelia Syndrome

Cellular components related to Sc Phocomelia Syndrome according to GeneCards Suite gene sharing:

Biological processes related to Sc Phocomelia Syndrome according to GeneCards Suite gene sharing:

Molecular functions related to Sc Phocomelia Syndrome according to GeneCards Suite gene sharing:

Sources for Sc Phocomelia Syndrome