MCID: SCP001
MIFTS: 39

Sc Phocomelia Syndrome

Categories: Genetic diseases, Rare diseases, Fetal diseases, Blood diseases

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:



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

Description from OMIM: 269000

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 21)
# Related Disease Score Top Affiliating Genes
1 roberts syndrome 31.7 ESCO2 NIPBL SMC3
2 phocomelia 31.2 CCDC25 ESCO2
3 hemangioma 10.0
4 intracranial aneurysm 10.0
5 melanoma 10.0
6 cranial nerve palsy 10.0
7 hypotrichosis 10.0
8 exencephaly 10.0
9 aneurysm 10.0
10 alzheimer disease 9.9
11 renal cell carcinoma, nonpapillary 9.9
12 neuronitis 9.9
13 hypoxia 9.9
14 tremor 9.9
15 wiedemann-steiner syndrome 9.9 SMC1A SMC3
16 intraocular retinoblastoma 9.5 ESCO2 SATB2
17 kbg syndrome 9.3 NIPBL SMC1A SMC3
18 cloacal exstrophy 9.2 AFP SATB2
19 physical disorder 9.0 AFP SATB2
20 cornelia de lange syndrome 8.9 ESCO2 NIPBL SMC1A SMC3
21 trehalase deficiency 8.2 NIPBL SATB2 SMC1A SMC3

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



Diseases related to Sc Phocomelia Syndrome

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 Frequency 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 absent radius 32 HP:0003974
17 posteriorly rotated ears 32 HP:0000358
18 knee flexion contracture 32 HP:0006380
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

Drugs & Therapeutics for Sc Phocomelia Syndrome

Search Clinical Trials , NIH Clinical Center for Sc Phocomelia Syndrome

Genetic Tests for Sc Phocomelia Syndrome

Anatomical Context for Sc Phocomelia Syndrome

MalaCards organs/tissues related to Sc Phocomelia Syndrome:

41
Bone

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 )
2011
3
Roberts-SC phocomelia syndrome. ( 11450388 )
2001
4
Picture of the month. Roberts-SC phocomelia syndrome. ( 8646318 )
1996
5
A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limbs. ( 8832138 )
1996
6
Possible genetic heterogeneity in the Roberts-SC phocomelia syndrome. ( 7558058 )
1995
7
Roberts-SC phocomelia syndrome: a case with additional anomalies. ( 8004795 )
1994
8
Roberts-SC phocomelia syndrome in a baboon (Papio anubis). ( 1460857 )
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 )
1989
12
Prenatal detection of Roberts-SC phocomelia syndrome: report of 2 sibs with characteristic manifestations. ( 2658590 )
1989
13
SC phocomelia syndrome, premature centromere separation, and congenital cranial nerve paralysis in two sisters, one with malignant melanoma. ( 3740099 )
1986
14
Chromatid repulsion associated with Roberts/SC phocomelia syndrome is reduced in malignant cells and not expressed in interspecies somatic-cell hybrids. ( 3788975 )
1986
15
Roberts'--SC phocomelia syndrome with cytogenetic findings. ( 7106776 )
1982
16
A case of SC-phocomelia syndrome with nonrandom centromere separation. ( 7163280 )
1982
17
Cytogenetic findings in Roberts-SC phocomelia syndrome(s). ( 495649 )
1979
18
The SC phocomelia syndrome: report of two cases with cytogenetic abnormality. ( 517578 )
1979
19
Hypomelia-hypotrichosis-facial hemangioma syndrome (pseudothalidomide, SC syndrome, SC phocomelia syndrome). ( 5033248 )
1972

Variations for Sc Phocomelia Syndrome

ClinVar genetic disease variations for Sc Phocomelia Syndrome:

6
(show top 50) (show all 162)
# 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.252_253delAT (p.Ser85Phefs) deletion Pathogenic rs80359844 GRCh37 Chromosome 8, 27634077: 27634078
32 ESCO2 NM_001017420.2(ESCO2): c.252_253delAT (p.Ser85Phefs) deletion Pathogenic rs80359844 GRCh38 Chromosome 8, 27776560: 27776561
33 ESCO2 NM_001017420.2(ESCO2): c.294_297delGAGA (p.Arg99Serfs) deletion Pathogenic rs80359845 GRCh37 Chromosome 8, 27634119: 27634122
34 ESCO2 NM_001017420.2(ESCO2): c.294_297delGAGA (p.Arg99Serfs) deletion Pathogenic rs80359845 GRCh38 Chromosome 8, 27776602: 27776605
35 ESCO2 NM_001017420.2(ESCO2): c.307_311delAAAGA (p.Lys103Glufs) deletion Pathogenic rs80359846 GRCh37 Chromosome 8, 27634132: 27634136
36 ESCO2 NM_001017420.2(ESCO2): c.307_311delAAAGA (p.Lys103Glufs) deletion Pathogenic rs80359846 GRCh38 Chromosome 8, 27776615: 27776619
37 ESCO2 NM_001017420.2(ESCO2): c.308_309delAA (p.Lys103Argfs) deletion Pathogenic rs80359847 GRCh37 Chromosome 8, 27634133: 27634134
38 ESCO2 NM_001017420.2(ESCO2): c.308_309delAA (p.Lys103Argfs) deletion Pathogenic rs80359847 GRCh38 Chromosome 8, 27776616: 27776617
39 ESCO2 NM_001017420.2(ESCO2): c.417dupA (p.Pro140Thrfs) duplication Pathogenic rs80359848 GRCh37 Chromosome 8, 27634242: 27634242
40 ESCO2 NM_001017420.2(ESCO2): c.417dupA (p.Pro140Thrfs) duplication Pathogenic rs80359848 GRCh38 Chromosome 8, 27776725: 27776725
41 ESCO2 NM_001017420.2(ESCO2): c.745_746delGT (p.Val249Glnfs) deletion Pathogenic rs80359851 GRCh37 Chromosome 8, 27634570: 27634571
42 ESCO2 NM_001017420.2(ESCO2): c.745_746delGT (p.Val249Glnfs) deletion Pathogenic rs80359851 GRCh38 Chromosome 8, 27777053: 27777054
43 ESCO2 NM_001017420.2(ESCO2): c.760delA (p.Thr254Leufs) deletion Pathogenic rs80359854 GRCh37 Chromosome 8, 27634585: 27634585
44 ESCO2 NM_001017420.2(ESCO2): c.760delA (p.Thr254Leufs) deletion Pathogenic rs80359854 GRCh38 Chromosome 8, 27777068: 27777068
45 ESCO2 NM_001017420.2(ESCO2): c.764_765delTT (p.Phe255Cysfs) deletion Pathogenic rs80359855 GRCh37 Chromosome 8, 27634589: 27634590
46 ESCO2 NM_001017420.2(ESCO2): c.764_765delTT (p.Phe255Cysfs) deletion Pathogenic rs80359855 GRCh38 Chromosome 8, 27777072: 27777073
47 ESCO2 NM_001017420.2(ESCO2): c.875_878delACAG (p.Asp292Glufs) deletion Pathogenic rs80359856 GRCh37 Chromosome 8, 27637704: 27637707
48 ESCO2 NM_001017420.2(ESCO2): c.875_878delACAG (p.Asp292Glufs) deletion Pathogenic rs80359856 GRCh38 Chromosome 8, 27780187: 27780190
49 ESCO2 NM_001017420.2(ESCO2): c.879_880delAG (p.Arg293Serfs) deletion Pathogenic rs80359857 GRCh37 Chromosome 8, 27637708: 27637709
50 ESCO2 NM_001017420.2(ESCO2): c.879_880delAG (p.Arg293Serfs) deletion Pathogenic rs80359857 GRCh38 Chromosome 8, 27780191: 27780192

Expression for Sc Phocomelia Syndrome

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

Pathways for Sc Phocomelia Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.78 ESCO2 NIPBL SMC1A SMC3
2 11.23 SMC1A SMC3
3 11.1 SMC1A SMC3
4
Show member pathways
10.9 SMC1A SMC3
5
Show member pathways
10.21 NIPBL SMC1A SMC3

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 chromosome GO:0005694 9.56 ESCO2 NIPBL SMC1A SMC3
2 chromatin GO:0000785 9.5 ESCO2 NIPBL SMC3
3 chromosome, centromeric region GO:0000775 9.4 SMC1A SMC3
4 mitotic spindle pole GO:0097431 9.37 SMC1A SMC3
5 nuclear matrix GO:0016363 9.33 SATB2 SMC1A SMC3
6 cohesin complex GO:0008278 8.96 SMC1A SMC3
7 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 9.63 NIPBL SMC1A SMC3
3 meiotic cell cycle GO:0051321 9.49 SMC1A SMC3
4 sister chromatid cohesion GO:0007062 9.48 SMC1A SMC3
5 double-strand break repair GO:0006302 9.43 ESCO2 NIPBL
6 chromosome organization GO:0051276 9.4 SMC1A SMC3
7 regulation of mitotic spindle assembly GO:1901673 9.32 SMC1A SMC3
8 regulation of DNA replication GO:0006275 9.26 ESCO2 SMC3
9 mitotic sister chromatid cohesion GO:0007064 9.16 NIPBL SMC1A
10 negative regulation of DNA endoreduplication GO:0032876 8.96 SMC1A SMC3
11 stem cell population maintenance GO:0019827 8.8 NIPBL 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 for Sc Phocomelia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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