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

SCPS MCID: SCP001 MIFTS: 46	Sc Phocomelia Syndrome (SCPS) Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic 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 ⁵⁶ ¹² ⁷³ ¹³ ¹⁵ ³⁹

Sc Pseudothalidomide Syndrome ⁵⁶ ¹² ⁷³

Hypomelia Hypotrichosis Facial Hemangioma Syndrome ¹²

Roberts-Sc Phocomelia Syndrome ⁷¹

Scps ⁷³

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
allelic to roberts syndrome

HPO:

³¹

sc phocomelia syndrome:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0050536

OMIM ⁵⁶ 269000

MedGen ⁴¹ C0392475

UMLS ⁷¹ C0392475

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Summaries for Sc Phocomelia Syndrome

UniProtKB/Swiss-Prot : ⁷³ 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 Mitotic Metaphase and Anaphase. Affiliated tissues include bone, lung and kidney, 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.

More information 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 top 50) (show all 53)

#	Related Disease	Score	Top Affiliating Genes
1	roberts syndrome	30.0	SMC3 SMC1A RAD21 PDS5A NIPBL MAU2
2	phocomelia	10.8
3	microcephaly	10.4
4	hemangioma	10.4
5	allergic encephalomyelitis	10.3
6	hydrocephalus	10.3
7	impotence	10.3
8	renal cell carcinoma, nonpapillary	10.2
9	helix syndrome	10.2
10	cryptococcosis	10.2
11	cleft palate, isolated	10.1
12	hypertelorism	10.1
13	fryns microphthalmia syndrome	10.1
14	autosomal recessive disease	10.1
15	microphthalmia	10.1
16	synostosis	10.1
17	46 xx gonadal dysgenesis	10.1
18	cranial nerve palsy	10.1
19	hypotrichosis	10.1
20	cavernous hemangioma	10.1
21	cleft lip	10.1
22	exophthalmos	10.1
23	chromosomal triplication	10.1
24	encephalocele	10.1
25	exencephaly	10.1
26	aneurysm	10.1
27	multicystic dysplastic kidney	10.1
28	alzheimer disease	10.0
29	attention deficit-hyperactivity disorder	10.0
30	schistosoma mansoni infection, susceptibility/	10.0
31	cervical cancer	10.0
32	alveolar soft part sarcoma	10.0
33	major affective disorder 8	10.0
34	major affective disorder 9	10.0
35	chorioamnionitis	10.0
36	cardiac arrest	10.0
37	schistosomiasis	10.0
38	toxic shock syndrome	10.0
39	pulmonary tuberculosis	10.0
40	bipolar disorder	10.0
41	myopathy	10.0
42	clear cell renal cell carcinoma	10.0
43	severe combined immunodeficiency	10.0
44	neuroblastoma	10.0
45	chronic pain	10.0
46	tremor	10.0
47	streptococcal toxic-shock syndrome	10.0
48	wiedemann-steiner syndrome	9.8	SMC3 SMC1A
49	diaphragmatic hernia, congenital	9.5	SMC3 SMC1A NIPBL
50	cornelia de lange syndrome 1	9.4	RAD21 NIPBL

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

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Symptoms & Phenotypes for Sc Phocomelia Syndrome

Human phenotypes related to Sc Phocomelia Syndrome:

³¹ (show all 24)

#	Description	HPO Source Accession
1	clinodactyly ³¹	HP:0030084
2	seizures ³¹	HP:0001250
3	global developmental delay ³¹	HP:0001263
4	short stature ³¹	HP:0004322
5	micrognathia ³¹	HP:0000347
6	underdeveloped nasal alae ³¹	HP:0000430
7	intrauterine growth retardation ³¹	HP:0001511
8	microcephaly ³¹	HP:0000252
9	wormian bones ³¹	HP:0002645
10	posteriorly rotated ears ³¹	HP:0000358
11	cleft upper lip ³¹	HP:0000204
12	short thumb ³¹	HP:0009778
13	hip contracture ³¹	HP:0003273
14	blue sclerae ³¹	HP:0000592
15	sparse hair ³¹	HP:0008070
16	aortic valve stenosis ³¹	HP:0001650
17	phocomelia ³¹	HP:0009829
18	knee flexion contracture ³¹	HP:0006380
19	absent radius ³¹	HP:0003974
20	midface capillary hemangioma ³¹	HP:0007452
21	radial deviation of finger ³¹	HP:0009466
22	fair hair ³¹	HP:0002286
23	aplasia of the ulna ³¹	HP:0003982
24	premature separation of centromeric heterochromatin ³¹	HP:0003616

Symptoms via clinical synopsis from OMIM:

⁵⁶

Skeletal Hands:
clinodactyly
small thumbs

Growth Height:
short stature

Growth Other:
intrauterine growth retardation

Skeletal Skull:
wormian bones

Skin Nails Hair Hair:
sparse hair
silvery-blond hair

Skin Nails Hair Skin:
midface capillary hemangioma

Skeletal Limbs:
knee contractures
absence of radius and ulna

Head And Neck Nose:
hypoplastic nasal alae

Head And Neck Eyes:
bluish sclerae

Neurologic Central Nervous System:
seizures
developmental delay

Head And Neck Face:
micrognathia

Head And Neck Head:
microcephaly

Head And Neck Ears:
posteriorly rotated ears
absent lobules

Head And Neck Mouth:
cleft lip

Laboratory Abnormalities:
premature separation of centromeric heterochromatin

Cardiovascular Heart:
aortic stenosis

Skeletal Pelvis:
hip contractures

Clinical features from OMIM:

269000

UMLS symptoms related to Sc Phocomelia Syndrome:

seizures

GenomeRNAi Phenotypes related to Sc Phocomelia Syndrome according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased Salmonella enterica Typhimurium invasion	GR00133-A-1	9.13	CDCA5 SMC1A SMC3
2	Effect on mitosis	GR00257-A-2	8.92	CDCA5 RAD21 SMC1A SMC3

MGI Mouse Phenotypes related to Sc Phocomelia Syndrome:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	craniofacial	MP:0005382	9.35	CDCA5 MAU2 NIPBL PDS5A SMC3
2	mortality/aging	MP:0010768	9.23	CDCA5 ESCO2 MAU2 NIPBL PDS5A RAD21

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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:

⁴⁰

Bone, Lung, Kidney

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Publications for Sc Phocomelia Syndrome

Articles related to Sc Phocomelia Syndrome:

(show all 48)

#	Title	Authors	PMID	Year
1	SC phocomelia syndrome, premature centromere separation, and congenital cranial nerve paralysis in two sisters, one with malignant melanoma. ⁶¹ ⁵⁶ ⁶	Parry DM...Cowan JM	3740099	1986
2	Cytogenetic findings in Roberts-SC phocomelia syndrome(s). ⁶¹ ⁵⁶ ⁶	Tomkins D...Roberts M	495649	1979
3	Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. ⁵⁶ ⁶	Schule B...Francke U	16380922	2005
4	History of C-patient with SC-Roberts/pseudothalidamide syndrome. ⁵⁶ ⁶	Feingold M	1642282	1992
5	A sibship with Roberts/SC phocomelia syndrome. ⁶¹ ⁵⁶	Holmes-Siedle M...Crouchman M	2240038	1990
6	Roberts'--SC phocomelia syndrome with cytogenetic findings. ⁶¹ ⁵⁶	Leonard P...Skardoon L	7106776	1982
7	The SC phocomelia syndrome: report of two cases with cytogenetic abnormality. ⁶¹ ⁵⁶	Qazi QH...Choi SJ	517578	1979
8	The SC phocomelia and the Roberts syndrome: nosologic aspects. ⁶¹ ⁵⁶	Herrmann J...Opitz JM	872834	1977
9	Hypomelia-hypotrichosis-facial hemangioma syndrome (pseudothalidomide, SC syndrome, SC phocomelia syndrome). ⁶¹ ⁵⁶	Hall BD...Greenberg MH	5033248	1972
10	The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature. ⁵⁶	Goh ES...Morel CF	20101700	2010
11	The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. ⁵⁶	Gordillo M...Jabs EW	18411254	2008
12	Roberts Syndrome ⁶	Gordillo M...Jabs EW	20301332	2006
13	Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. ⁶	Vega H...Joenje H	15821733	2005
14	Lincoln vs. Douglas again; comments on the papers by Curry et al, Greenberg et al, and Belmont et al. ⁵⁶	Opitz JM...Lowry RB	3812580	1987
15	Radial aplasia, chromosomal aberration, and anterior chamber cleavage manifestations in two siblings. ⁵⁶	BenEzra D...Zelikovitch A	7171776	1982
16	The tetraphocomelia -- cleft palate syndrome: description of a new case. ⁵⁶	Grosse FR...Wiedemann HR	1176127	1975
17	Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility. ⁶¹	Sezer A...Percin EF	30590172	2019
18	Expanding the mutation and clinical spectrum of Roberts syndrome. ⁶¹	Afifi HH...Gaber KR	26710928	2016
19	Roberts-SC Phocomelia Syndrome (Pseudothalidomide Syndrome): A Case Report. ⁶¹	Keypour F...Behnam B	24971102	2013
20	Spontaneous intracranial hemorrhage and multiple intracranial aneurysms in a patient with Roberts/SC phocomelia syndrome. ⁶¹	Wang AC...Maher CO	22044369	2011
21	Tetra-amelia with lung hypoplasia and facial clefts, Roberts-SC syndrome: report of two cases. ⁶¹	Ragavan M...Kumar C	20625748	2010
22	Heterochromatin and the cohesion of sister chromatids. ⁶¹	Gartenberg M	19308703	2009
23	Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. ⁶¹	Deardorff MA...Krantz ID	17273969	2007
24	Roberts syndrome, normal cell division, and normal intelligence. ⁶¹	Hwang K...Lee HS	12040206	2002
25	Symmetrical upper limb peromelia and lower limb phocomelia associated with a de novo apparently balanced reciprocal translocation: 46,XX,t(2; 12)(p25.1;q24.1). ⁶¹	Murray RS...FitzPatrick DR	12002154	2002
26	Roberts-SC phocomelia syndrome. ⁶¹	Maheshwari A...Narang A	11450388	2001
27	[Roberts-SC phocomelia syndrome]. ⁶¹	Musfeld DA...Heinzl S	11423730	2001
28	[Roberts-SC phocomelia syndrome]. ⁶¹	Kawame H	11057210	2000
29	Roberts SC phocomelia with isolated cleft palate, thrombocytopenia, and eosinophilia. ⁶¹	Camlibel T...Kutlu N	10422009	1999
30	TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome. ⁶¹	Gripp KW...Zackai EH	9934984	1999
31	Tetra-amelia and splenogonadal fusion in Roberts syndrome. ⁶¹	de Ravel TJ...Wright CA	9028456	1997
32	Tri-amelia and phocomelia with multiple malformations resembling Roberts syndrome in a fetus: is it a variant or a new syndrome? ⁶¹	Song SY...Chi JG	9147883	1996
33	Picture of the month. Roberts-SC phocomelia syndrome. ⁶¹	Lopez-Allen G...Tunnessen WW	8646318	1996
34	A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limbs. ⁶¹	Concolino D...Andria G	8832138	1996
35	Possible genetic heterogeneity in the Roberts-SC phocomelia syndrome. ⁶¹	Sabry MA	7558058	1995
36	Roberts-SC phocomelia syndrome: a case with additional anomalies. ⁶¹	Satar M...Tunali N	8004795	1994
37	Roberts-SC phocomelia syndrome in a baboon (Papio anubis). ⁶¹	Kovacs MS...Bennett BT	1460857	1992
38	Prenatal sonographic features and management of a fetus with Roberts-SC phocomelia syndrome (pseudothalidomide syndrome) and pulmonary hypoplasia. ⁶¹	Sherer DM...Woods JR	1741870	1991
39	Roberts syndrome with normal cell division. ⁶¹	Keppen LD...Sisken JE	2012128	1991
40	Prenatal detection of Roberts-SC phocomelia syndrome: report of 2 sibs with characteristic manifestations. ⁶¹	Robins DB...Zackai EH	2658590	1989
41	Roberts-SC phocomelia syndrome with exencephaly. ⁶¹	Verloes A...Dodinval P	2817778	1989
42	Incidental detection of premature centromere separation in amniocytes associated with a mild form of Roberts syndrome. ⁶¹	Stanley WS...McNeal KS	3205861	1988
43	[Roberts-SC phocomelia syndrome: cytogenetic findings and clinical variability in three brothers]. ⁶¹	Antinolo Gil G...Sanchez Garcia J	3057982	1988
44	Chromatid repulsion associated with Roberts/SC phocomelia syndrome is reduced in malignant cells and not expressed in interspecies somatic-cell hybrids. ⁶¹	Krassikoff NE...Francke U	3788975	1986
45	[Roberts-SC phocomelia syndrome]. ⁶¹	Baggio P...Audino G	3725603	1986
46	[The Roberts-SC phocomelia syndrome. Apropos of a case without cytogenetic changes and review of the literature]. ⁶¹	Lopez-Herce J...Peralta A	3006564	1985
47	Abnormalities in the cell-division cycle in Roberts syndrome fibroblasts: a cellular basis for the phenotypic characteristics? ⁶¹	Tomkins DJ...Sisken JE	6517054	1984
48	A case of SC-phocomelia syndrome with nonrandom centromere separation. ⁶¹	Bokesoy I...Bilgic S	7163280	1982

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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	PubmedIds
1	ESCO2	Establishment Of Sister Chromatid Cohesion N-Acetyltransferase 2	Protein Coding	937.99	Molecular basis known ⁵⁶ Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	15821733 495649 20301332 (more) 16380922 3740099 1642282
2	PDS5A	PDS5 Cohesin Associated Factor A	Protein Coding	7.32	DISEASES inferred ¹⁵
3	ESCO1	Establishment Of Sister Chromatid Cohesion N-Acetyltransferase 1	Protein Coding	7.22	DISEASES inferred ¹⁵
4	NIPBL	NIPBL Cohesin Loading Factor	Protein Coding	7.08	DISEASES inferred ¹⁵
5	SMC3	Structural Maintenance Of Chromosomes 3	Protein Coding	7.03	DISEASES inferred ¹⁵
6	SMC1A	Structural Maintenance Of Chromosomes 1A	Protein Coding	6.95	DISEASES inferred ¹⁵
7	DOCK8-AS1	DOCK8 Antisense RNA 1	RNA Gene	6.86	DISEASES inferred ¹⁵
8	MAU2	MAU2 Sister Chromatid Cohesion Factor	Protein Coding	5.97	DISEASES inferred ¹⁵
9	RAD21	RAD21 Cohesin Complex Component	Protein Coding	5.77	DISEASES inferred ¹⁵
10	CDCA5	Cell Division Cycle Associated 5	Protein Coding	5.68	DISEASES inferred ¹⁵

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Variations for Sc Phocomelia Syndrome

ClinVar genetic disease variations for Sc Phocomelia Syndrome:

⁶ (show top 50) (show all 84) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	ESCO2	NM_001017420.3(ESCO2):c.894delinsTTTTAT (p.Glu298fs)	indel	Pathogenic	210961	rs797045565	8:27637723-27637723	8:27780206-27780206
2	ESCO2	NM_001017420.3(ESCO2):c.911dup (p.Asn304fs)	duplication	Pathogenic	210962	rs797045566	8:27637735-27637736	8:27780218-27780219
3	ESCO2	NM_001017420.3(ESCO2):c.1615T>G (p.Trp539Gly)	SNV	Pathogenic	1735	rs80359868	8:27657175-27657175	8:27799658-27799658
4	ESCO2	NM_001017420.3(ESCO2):c.505C>T (p.Arg169Ter)	SNV	Pathogenic	1736	rs80359849	8:27634330-27634330	8:27776813-27776813
5	ESCO2	NM_001017420.3(ESCO2):c.751dup (p.Glu251fs)	duplication	Pathogenic	1737	rs1554554098	8:27634575-27634576	8:27777058-27777059
6	ESCO2	NM_001017420.3(ESCO2):c.760dup (p.Thr254fs)	duplication	Pathogenic	1738	rs80359852	8:27634576-27634577	8:27777059-27777060
7	ESCO2	NM_001017420.3(ESCO2):c.1269G>A (p.Trp423Ter)	SNV	Pathogenic	1739	rs80359864	8:27649485-27649485	8:27791968-27791968
8	ESCO2	NM_001017420.3(ESCO2):c.604C>T (p.Gln202Ter)	SNV	Pathogenic	1740	rs80359850	8:27634429-27634429	8:27776912-27776912
9	ESCO2	NM_001017420.3(ESCO2):c.1111_1112insG (p.Thr371fs)	insertion	Pathogenic	21231	rs1554555716	8:27645499-27645500	8:27787982-27787983
10	ESCO2	NM_001017420.3(ESCO2):c.1263+1G>C	SNV	Pathogenic	21235	rs80359863	8:27646496-27646496	8:27788979-27788979
11	ESCO2	NM_001017420.3(ESCO2):c.1354-18G>A	SNV	Pathogenic	21236	rs80359865	8:27650167-27650167	8:27792650-27792650
12	ESCO2	NM_001017420.3(ESCO2):c.1457_1458AG[2] (p.Arg487fs)	short repeat	Pathogenic	21237	rs80359866	8:27650288-27650289	8:27792771-27792772
13	ESCO2	NM_001017420.3(ESCO2):c.1597dup (p.Cys533fs)	duplication	Pathogenic	21238	rs80359867	8:27657156-27657157	8:27799639-27799640
14	ESCO2	NM_001017420.3(ESCO2):c.1674-2A>G	SNV	Pathogenic	21239	rs80359869	8:27660821-27660821	8:27803304-27803304
15	ESCO2	NM_001017420.3(ESCO2):c.252_253del (p.Ser85fs)	deletion	Pathogenic	21241	rs80359844	8:27634076-27634077	8:27776559-27776560
16	ESCO2	NM_001017420.3(ESCO2):c.292_293GA[1] (p.Arg99fs)	short repeat	Pathogenic	21242	rs80359845	8:27634117-27634120	8:27776600-27776603
17	ESCO2	NM_001017420.3(ESCO2):c.307_311del (p.Lys103fs)	deletion	Pathogenic	21243	rs80359846	8:27634131-27634135	8:27776614-27776618
18	ESCO2	NM_001017420.3(ESCO2):c.308_309del (p.Lys103fs)	deletion	Pathogenic	21244	rs80359847	8:27634131-27634132	8:27776614-27776615
19	ESCO2	NM_001017420.3(ESCO2):c.417dup (p.Pro140fs)	duplication	Pathogenic	21245	rs80359848	8:27634236-27634237	8:27776719-27776720
20	ESCO2	NM_001017420.3(ESCO2):c.745_746del (p.Val249fs)	deletion	Pathogenic	21246	rs80359851	8:27634569-27634570	8:27777052-27777053
21	ESCO2	NM_001017420.3(ESCO2):c.760del (p.Thr254fs)	deletion	Pathogenic	21247	rs80359852	8:27634577-27634577	8:27777060-27777060
22	ESCO2	NM_001017420.3(ESCO2):c.764_765del (p.Phe255fs)	deletion	Pathogenic	21249	rs80359855	8:27634587-27634588	8:27777070-27777071
23	ESCO2	NM_001017420.3(ESCO2):c.876_879del (p.Asp292fs)	deletion	Pathogenic	21250	rs80359856	8:27637703-27637706	8:27780186-27780189
24	ESCO2	NM_001017420.3(ESCO2):c.877_878AG[1] (p.Arg293fs)	short repeat	Pathogenic	21251	rs80359857	8:27637706-27637707	8:27780189-27780190
25	ESCO2	NM_001017420.3(ESCO2):c.955+2_955+5del	deletion	Pathogenic	21252	rs80359858	8:27637783-27637786	8:27780266-27780269
26	ESCO2	NM_001017420.3(ESCO2):c.1131+1G>A	SNV	Pathogenic	21233	rs80359861	8:27645520-27645520	8:27788003-27788003
27	ESCO2	NM_001017420.3(ESCO2):c.1132-7A>G	SNV	Pathogenic/Likely pathogenic	21234	rs80359862	8:27646357-27646357	8:27788840-27788840
28	ESCO2	NM_001017420.3(ESCO2):c.1111dup (p.Thr371fs)	duplication	Likely pathogenic	21232	rs80359859	8:27645492-27645493	8:27787975-27787976
29	ESCO2	NM_001017420.3(ESCO2):c.116dup (p.Asn39fs)	duplication	Likely pathogenic	800869		8:27633937-27633938	8:27776420-27776421
30	ESCO2	NM_001017420.3(ESCO2):c.956-2A>G	SNV	Likely pathogenic	804409		8:27641515-27641515	8:27783998-27783998
31	ESCO2	NM_001017420.3(ESCO2):c.1175G>A (p.Cys392Tyr)	SNV	Conflicting interpretations of pathogenicity	158573	rs146312522	8:27646407-27646407	8:27788890-27788890
32	ESCO2	NM_001017420.3(ESCO2):c.147C>G (p.Cys49Trp)	SNV	Conflicting interpretations of pathogenicity	196298	rs201989984	8:27633972-27633972	8:27776455-27776455
33	ESCO2	NM_001017420.3(ESCO2):c.1647T>C (p.Ile549=)	SNV	Conflicting interpretations of pathogenicity	362744	rs73568217	8:27657207-27657207	8:27799690-27799690
34	ESCO2	NM_001017420.3(ESCO2):c.1548G>A (p.Thr516=)	SNV	Conflicting interpretations of pathogenicity	362743	rs149917909	8:27657108-27657108	8:27799591-27799591
35	ESCO2	NM_001017420.3(ESCO2):c.1076A>C (p.Gln359Pro)	SNV	Conflicting interpretations of pathogenicity	362738	rs57479434	8:27645464-27645464	8:27787947-27787947
36	ESCO2	NM_001017420.3(ESCO2):c.1013+7A>G	SNV	Conflicting interpretations of pathogenicity	362737	rs149494070	8:27641581-27641581	8:27784064-27784064
37	ESCO2	NM_001017420.3(ESCO2):c.1735C>A (p.Pro579Thr)	SNV	Conflicting interpretations of pathogenicity	362745	rs115144373	8:27660884-27660884	8:27803367-27803367
38	ESCO2	NM_001017420.3(ESCO2):c.325T>C (p.Cys109Arg)	SNV	Conflicting interpretations of pathogenicity	362732	rs199653554	8:27634150-27634150	8:27776633-27776633
39	ESCO2	NM_001017420.3(ESCO2):c.447A>G (p.Gln149=)	SNV	Uncertain significance	362733	rs886062858	8:27634272-27634272	8:27776755-27776755
40	ESCO2	NM_001017420.3(ESCO2):c.*172G>C	SNV	Uncertain significance	362760	rs539459940	8:27661127-27661127	8:27803610-27803610
41	ESCO2	NM_001017420.3(ESCO2):c.*222T>C	SNV	Uncertain significance	362761	rs886062868	8:27661177-27661177	8:27803660-27803660
42	ESCO2	NM_001017420.3(ESCO2):c.112_113AC[14]	short repeat	Uncertain significance	362753	rs56062620	8:27661066-27661067	8:27803549-27803550
43	ESCO2	NM_001017420.3(ESCO2):c.112_113AC[7]	short repeat	Uncertain significance	362754	rs56062620	8:27661067-27661070	8:27803550-27803553
44	ESCO2	NM_001017420.3(ESCO2):c.112_113AC[11]	short repeat	Uncertain significance	362751	rs56062620	8:27661066-27661067	8:27803549-27803550
45	ESCO2	NM_001017420.3(ESCO2):c.*481dup	duplication	Uncertain significance	362765	rs111395487	8:27661421-27661422	8:27803904-27803905
46	ESCO2	NM_001017420.3(ESCO2):c.-33C>T	SNV	Uncertain significance	362729	rs886062856	8:27632108-27632108	8:27774591-27774591
47	ESCO2	NM_001017420.3(ESCO2):c.*155T>G	SNV	Uncertain significance	362759	rs886062867	8:27661110-27661110	8:27803593-27803593
48	ESCO2	NM_001017420.3(ESCO2):c.76_79dup	duplication	Uncertain significance	362748	rs139887923	8:27661030-27661031	8:27803513-27803514
49	ESCO2	NM_001017420.3(ESCO2):c.112_113AC[12]	short repeat	Uncertain significance	362752	rs56062620	8:27661066-27661067	8:27803549-27803550
50	ESCO2	NM_001017420.3(ESCO2):c.*261T>A	SNV	Uncertain significance	362762	rs886062869	8:27661216-27661216	8:27803699-27803699

Sources

Expression for Sc Phocomelia Syndrome

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

Sources

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 ⁶⁵ Show member pathways Cell Cycle ⁶⁵ M Phase ⁶⁵	12.77	SMC3 SMC1A RAD21 PDS5A NIPBL MAU2
2	Mitotic Metaphase and Anaphase ⁶⁵ Show member pathways Mitotic Anaphase ⁶⁵ Separation of Sister Chromatids ⁶⁵	12.38	SMC3 SMC1A RAD21 PDS5A CDCA5
3	SUMOylation ⁶⁵ Show member pathways Processing and activation of SUMO ⁶⁵ SUMO E3 ligases SUMOylate target proteins ⁶⁵ SUMO is conjugated to E1 (UBA2-SAE1) ⁶⁵ SUMO is proteolytically processed ⁶⁵ SUMO is transferred from E1 to E2 (UBE2I, UBC9) ⁶⁵ SUMOylation of chromatin organization proteins ⁶⁵ SUMOylation of DNA damage response and repair proteins ⁶⁵ SUMOylation of transcription factors ⁶⁵	12.19	SMC3 SMC1A RAD21
4	DNA Damage ⁴	12.1	SMC3 SMC1A RAD21
5	Mitotic Prometaphase ⁶⁵ Show member pathways Condensation of Prometaphase Chromosomes ⁶⁵ Resolution of Sister Chromatid Cohesion ⁶⁵ RHO GTPases Activate Formins ⁶⁵	12.09	SMC3 SMC1A RAD21 PDS5A CDCA5
6	Meiosis ⁶⁵ Show member pathways Meiotic recombination ⁶⁵ Meiotic synapsis ⁶⁵	12.07	SMC3 SMC1A RAD21
7	Chromatin Regulation / Acetylation ⁴	11.99	SMC3 SMC1A RAD21
8	Cell cycle ¹ ³⁶	11.9	SMC3 SMC1A RAD21
9	Cell cycle_Spindle assembly and chromosome separation ²²	11.48	SMC3 SMC1A RAD21
10	Mitotic Telophase/Cytokinesis ⁶⁵ Show member pathways Cohesin Loading onto Chromatin ⁶⁵	10.52	SMC3 SMC1A RAD21 PDS5A NIPBL MAU2

Sources

GO Terms for Sc Phocomelia Syndrome

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

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleus	GO:0005634	10.13	SMC3 SMC1A RAD21 PDS5A NIPBL MAU2
2	nucleoplasm	GO:0005654	10.02	SMC3 SMC1A RAD21 PDS5A NIPBL MAU2
3	chromosome, centromeric region	GO:0000775	9.65	SMC3 SMC1A RAD21 PDS5A CDCA5
4	nuclear matrix	GO:0016363	9.63	SMC3 SMC1A RAD21
5	chromosome	GO:0005694	9.61	SMC3 SMC1A RAD21 PDS5A NIPBL MAU2
6	condensed nuclear chromosome	GO:0000794	9.51	SMC1A RAD21
7	meiotic cohesin complex	GO:0030893	9.5	SMC3 SMC1A RAD21
8	mitotic spindle pole	GO:0097431	9.49	SMC3 SMC1A
9	cohesin complex	GO:0008278	9.46	SMC3 SMC1A RAD21 CDCA5
10	Scc2-Scc4 cohesin loading complex	GO:0090694	9.43	NIPBL MAU2
11	SMC loading complex	GO:0032116	9.4	NIPBL MAU2
12	chromatin	GO:0000785	9.23	SMC3 RAD21 PDS5A NIPBL MAU2 ESCO2

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

(show all 18)

#	Name	GO ID	Score	Top Affiliating Genes
1	cellular response to DNA damage stimulus	GO:0006974	9.86	SMC3 SMC1A RAD21 NIPBL
2	DNA repair	GO:0006281	9.81	SMC3 SMC1A RAD21 PDS5A
3	cell division	GO:0051301	9.73	SMC3 SMC1A RAD21 PDS5A MAU2 CDCA5
4	meiotic cell cycle	GO:0051321	9.7	SMC3 SMC1A RAD21
5	chromosome segregation	GO:0007059	9.67	RAD21 MAU2 ESCO2
6	stem cell population maintenance	GO:0019827	9.65	SMC3 SMC1A NIPBL
7	double-strand break repair	GO:0006302	9.62	RAD21 NIPBL ESCO2 CDCA5
8	cell cycle	GO:0007049	9.61	SMC3 SMC1A RAD21 PDS5A NIPBL MAU2
9	chromosome organization	GO:0051276	9.58	SMC3 SMC1A
10	regulation of mitotic spindle assembly	GO:1901673	9.57	SMC3 SMC1A
11	mitotic chromosome condensation	GO:0007076	9.55	NIPBL CDCA5
12	sister chromatid cohesion	GO:0007062	9.55	SMC3 SMC1A RAD21 ESCO2 ESCO1
13	protein localization to chromatin	GO:0071168	9.54	RAD21 ESCO2
14	regulation of DNA replication	GO:0006275	9.54	SMC3 ESCO2 ESCO1
15	maintenance of mitotic sister chromatid cohesion	GO:0034088	9.46	NIPBL MAU2
16	post-translational protein acetylation	GO:0034421	9.43	ESCO2 ESCO1
17	cohesin loading	GO:0071921	9.4	NIPBL MAU2
18	mitotic sister chromatid cohesion	GO:0007064	9.02	SMC1A PDS5A NIPBL MAU2 CDCA5

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	9.35	SMC3 SMC1A RAD21 NIPBL CDCA5
2	acetyltransferase activity	GO:0016407	9.16	ESCO2 ESCO1
3	mediator complex binding	GO:0036033	8.8	SMC3 SMC1A NIPBL

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

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¹⁴ DiseaseEnhancer

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¹⁷ EFO

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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

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³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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

Human phenotypes related to Sc Phocomelia Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Sc Phocomelia Syndrome:

GenomeRNAi Phenotypes related to Sc Phocomelia Syndrome according to GeneCards Suite gene sharing:

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