MCID: SCK004
MIFTS: 53

Seckel Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Seckel Syndrome

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 27ICD10, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Seckel Syndrome:

Name: Seckel Syndrome 10 45 22 47 12 51 24 65
Microcephalic Primordial Dwarfism 10 22
Nanocephalic Dwarfism 45 22
Bird-Headed Dwarfism 10 45
 
Virchow-Seckel Dwarfism 10
Seckel-Type Dwarfism 45
Harper's Syndrome 10
Sckl 45

Characteristics:

Orphanet epidemiological data:

51
seckel syndrome:
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology10 DOID:0050569
ICD1027 Q87.1
Orphanet51 808
ICD10 via Orphanet28 Q87.1
MESH via Orphanet37 C537533
UMLS via Orphanet66 C0265202
UMLS65 C0265202

Summaries for Seckel Syndrome

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NIH Rare Diseases:45 Seckel syndrome is a genetic disorder characterized by growth retardation, very small head (microcephaly( with intellectual disability , and unique facial features such as large eyes, beak-like nose, narrow face, and receding lower jaw. about less than 25% of the patients also have blood abnormalities. seckel syndrome is inherited in an autosomal recessive fashion. the condition may be divided in 8 different subtypes, according to the specific gene alteration (mutation ). treatment is supportive. last updated: 11/9/2015

MalaCards based summary: Seckel Syndrome, also known as microcephalic primordial dwarfism, is related to seckel syndrome 4 and microcephalic primordial dwarfism toriello type, and has symptoms including microcephaly, narrow face and micrognathia. An important gene associated with Seckel Syndrome is RBBP8 (Retinoblastoma Binding Protein 8), and among its related pathways are Homologous DNA Pairing and Strand Exchange and Regulation of TP53 Activity. Affiliated tissues include eye, bone and lung, and related mouse phenotypes are tumorigenesis and embryo.

Disease Ontology:10 An autosomal recessive disease characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability.

Wikipedia:68 The Seckel syndrome or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper\'s... more...

Related Diseases for Seckel Syndrome

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Diseases in the Seckel Syndrome family:

Seckel Syndrome 1 Seckel Syndrome 6
Seckel Syndrome 8 Seckel Syndrome 4
Seckel Syndrome 7 Seckel Syndrome 5
Seckel Syndrome 2

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

(show top 50)    (show all 100)
idRelated DiseaseScoreTop Affiliating Genes
1seckel syndrome 434.0CENPJ, PCNT
2microcephalic primordial dwarfism toriello type12.8
3bird headed-dwarfism, montreal type12.8
4microcephalic primordial dwarfism due to znf335 deficiency12.7
5microcephalic primordial dwarfism, montreal type12.7
6microcephalic primordial dwarfism, dauber type12.7
7microcephalic primordial dwarfism, alazami type12.7
8microcephalic primordial dwarfism-insulin resistance syndrome12.7
9seckel syndrome 112.5
10seckel syndrome 512.5
11seckel syndrome 212.5
12seckel syndrome 612.5
13seckel syndrome 812.5
14seckel syndrome 712.5
15primary autosomal recessive microcephalies and seckel syndrome spectrum disorders12.2
16gastric cancer10.4
17treacher collins syndrome 210.3CENPJ, PCNT
18facial paresis, hereditary congenital, 210.3ATRIP, DNA2
19microcephalic osteodysplastic primordial dwarfism, type ii10.3
20hiv-110.2
21hepatocellular carcinoma10.2
22endotheliitis10.2
23pulmonary venoocclusive disease 210.2CASC5, CEP152
24meier-gorlin syndrome 110.1ATR, ATRIP, CEP152, CEP63, PCNT
25dysbaric osteonecrosis10.1CDK5RAP2, CENPJ, CEP63, MCPH1
26neuroblastoma10.1
27myocardial infarction10.1
28systemic lupus erythematosus10.1
29malaria10.1
30chediak-higashi syndrome10.1
31multiple system atrophy10.1
32alzheimer disease10.1
33pseudoachondroplasia10.1
34burns10.1
35cholangiocarcinoma10.1
36hemangioma10.1
37hydrocephalus10.1
38neutropenia10.1
39scar contracture10.1
40thromboangiitis obliterans10.1
41tick-borne encephalitis10.1
42lissencephaly10.1
43colitis10.1
44inguinal hernia10.1
45myeloma10.1
46asbestosis10.1
47blind loop syndrome10.1
48fanconi syndrome10.1
49sexual sadism10.1
50trachoma10.1

Graphical network of the top 20 diseases related to Seckel Syndrome:



Diseases related to seckel syndrome

Symptoms for Seckel Syndrome

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Symptoms:

 51 (show all 24)
  • microcephaly
  • craniostenosis/craniosynostosis/sutural synostosis
  • narrow face
  • micrognathia/retrognathia/micrognathism/retrognathism
  • beaked nose
  • small/hypoplastic/adherent/absent ear lobe
  • clinodactyly of fifth finger
  • wide space between 1st-2nd toes
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • abnormal/absent ossification
  • autosomal recessive inheritance
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • short stature/dwarfism/nanism
  • premature ageing
  • intrauterine growth retardation
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • glaucoma
  • anodontia/oligodontia/hypodontia
  • enamel anomaly
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • cone epiphyses/epiphysis
  • hyperextensible joints/articular hyperlaxity
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • scoliosis

HPO human phenotypes related to Seckel Syndrome:

(show all 23)
id Description Frequency HPO Source Accession
1 microcephaly hallmark (90%) HP:0000252
2 narrow face hallmark (90%) HP:0000275
3 micrognathia hallmark (90%) HP:0000347
4 convex nasal ridge hallmark (90%) HP:0000444
5 craniosynostosis hallmark (90%) HP:0001363
6 intrauterine growth retardation hallmark (90%) HP:0001511
7 sandal gap hallmark (90%) HP:0001852
8 clinodactyly of the 5th finger hallmark (90%) HP:0004209
9 short stature hallmark (90%) HP:0004322
10 decreased body weight hallmark (90%) HP:0004325
11 abnormality of bone mineral density hallmark (90%) HP:0004348
12 prematurely aged appearance hallmark (90%) HP:0007495
13 aplasia/hypoplasia of the earlobes hallmark (90%) HP:0009906
14 cognitive impairment hallmark (90%) HP:0100543
15 downslanted palpebral fissures typical (50%) HP:0000494
16 glaucoma typical (50%) HP:0000501
17 abnormality of dental enamel typical (50%) HP:0000682
18 joint hypermobility typical (50%) HP:0001382
19 abnormality of the hip bone typical (50%) HP:0003272
20 reduced number of teeth typical (50%) HP:0009804
21 cone-shaped epiphysis typical (50%) HP:0010579
22 abnormal hair quantity typical (50%) HP:0011362
23 scoliosis occasional (7.5%) HP:0002650

Drugs & Therapeutics for Seckel Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Seckel Syndrome

Genetic Tests for Seckel Syndrome

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Genetic tests related to Seckel Syndrome:

id Genetic test Affiliating Genes
1 Seckel Syndrome22 RBBP8

Anatomical Context for Seckel Syndrome

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MalaCards organs/tissues related to Seckel Syndrome:

33
Eye, Bone, Lung, Skin, Neutrophil, Endothelial, T cells

Animal Models for Seckel Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Seckel Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.5ATR, CDK5RAP2, CDK6, DNA2, LIG4, RBBP8
2MP:00053808.7ATR, CDK6, CENPE, CENPJ, CEP152, PHC1
3MP:00053847.8ATR, CDK5RAP2, CDK6, CENPE, CENPJ, CEP152
4MP:00107687.3ATR, ATRIP, CASC5, CDK5RAP2, CDK6, CENPE

Publications for Seckel Syndrome

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Articles related to Seckel Syndrome:

(show top 50)    (show all 94)
idTitleAuthorsYear
1
High Prolactin Excretion in Patients with Diabetes Mellitus and Impaired Renal Function. (26299069)
2015
2
Primary familial brain calcification: Genetic analysis and clinical spectrum. (25284758)
2014
3
High flow nasal cannula oxygen therapy for infants and young children with bronchiolitis. (25286711)
2014
4
Feline immunodeficiency virus envelope glycoproteins antagonize tetherin through a distinctive mechanism that requires virion incorporation. (24390322)
2014
5
Meanings of feeling well for women with fibromyalgia. (23530542)
2013
6
Diverse manifestations and management options in Klippel-Trenaunay syndrome: a single centre 10-year experience. (23710784)
2013
7
Gestational diabetes in rhode island. (23641453)
2013
8
Evidence-based medicine: cleft palate. (24281590)
2013
9
Identification of histone deacetylase 1 protein complexes in liver cancer cells. (23621261)
2013
10
Comparison of the Spectrum of Radiologic and Clinical Manifestations of Pulmonary Disease Caused by Mycobacterium avium Complex and Mycobacterium xenopi. (24325924)
2013
11
Assessment of FSHR variants and antimA1llerian hormone in infertility patients with a reduced ovarian response to gonadotropin stimulation. (22401810)
2012
12
Orbital pleomorphic liposarcoma in an eight-year-old boy. (21417910)
2011
13
West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14. (21910242)
2011
14
Treatment of complex cervical dystonia with botulinum toxin: involvement of deep-cervical muscles may contribute to suboptimal responses. (21999891)
2011
15
Residues in the alternative reading frame tumor suppressor that influence its stability and p53-independent activities. (19331830)
2009
16
Limb-body wall complex in one fetus of a dizygotic twin pregnancy conceived by egg donation, in vitro fertilization and embryo transfer: prenatal diagnosis and literature review. (20045776)
2009
17
Pyramidal cell responses to gamma-aminobutyric acid differ in type I and type II cortical dysplasia. (18615638)
2008
18
Gaucher disease: report of de novo GBA mutation in a Spanish family. (18313951)
2008
19
Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa. (18558993)
2008
20
Spectroscopic investigation on the interaction of J-aggregate with human serum albumin. (17482339)
2007
21
Altered, but not diminished specific T cell response in chronic mucocutaneous candidiasis patients. (17960405)
2007
22
Prognostic value of CDC25 phosphatases expression in laryngeal cancer]. (18551998)
2007
23
The GNB3 C825T polymorphism affects response to HCV therapy with pegylated interferon in HCV/HIV co-infected but not in HCV mono-infected patients. (17559964)
2007
24
Reelin mouse mutants as models of cortical development disorders. (16266828)
2006
25
Tarsal tunnel syndrome in athletes. (16567455)
2006
26
Molecular diagnosis of a BRAF papillary thyroid carcinoma with multiple chromosome abnormalities and rare adrenal and hypothalamic metastases. (17199440)
2006
27
Serum erythropoietin levels in septic shock. (16235474)
2005
28
Familial inflammatory inclusion body myositis. (15769920)
2005
29
Proteomic analysis of a detergent-resistant membrane skeleton from neutrophil plasma membranes. (12202484)
2002
30
The semaphorin receptor plexin-B1 signals through a direct interaction with the Rho-specific nucleotide exchange factor, LARG. (12196628)
2002
31
Liganded androgen receptor interaction with beta-catenin: nuclear co-localization and modulation of transcriptional activity in neuronal cells. (11916967)
2002
32
Determination of serum semicarbazide-sensitive amine oxidase activity in diabetic retinopathy in type-2 diabetes]. (12532650)
2002
33
Alpha(1) and beta(2) adrenoreceptor agonists inhibit pentylenetetrazole-induced seizures in mice lacking norepinephrine. (11504801)
2001
34
Coupling of the IP3 receptor/Ca2+ channel with Ca2+ storage proteins chromogranins A and B in secretory granules. (10941192)
2000
35
The diagnosis of skeletal tuberculosis by polymerase chain reaction. (11235055)
2000
36
Low density lipoprotein receptor-negative mice expressing human apolipoprotein B-100 develop complex atherosclerotic lesions on a chow diet: no accentuation by apolipoprotein(a). (9539774)
1998
37
Immunolocalization of the multi-sarco/endoplasmic reticulum Ca2+ ATPase system in human platelets. (9136965)
1997
38
Adult embryonal rhabdomyosarcoma showing marked response to radiotherapy: a case report. (9278375)
1997
39
Morphometric analysis of orbital, buccal and subcutaneous fats: their potential in the treatment of enophthalmos. (7718528)
1995
40
The role of cytokines in experimental listeriosis. (8125514)
1993
41
Vitamin K and human nutrition. (1573141)
1992
42
Protein restriction rapidly diminishes the synthesis of transforming growth factor beta1 (TGFbeta1) during experimental glomerulonephritis]. (1407260)
1992
43
Cloning and characterization of cDNA encoding canine alpha-L-iduronidase. mRNA deficiency in mucopolysaccharidosis I dog. (1551868)
1992
44
Amebiasis: an update. (1554822)
1992
45
A comparative immunohistochemical study of adenoid cystic carcinoma of the skin and salivary glands. (1709341)
1991
46
Retinoschisis associated with optic nerve pits. (3337708)
1988
47
Extramedullary plasmacytoma in the head and neck: report of 10 cases. (3938383)
1985
48
Congenital fascial dystrophy--a noninflammatory disease of fascia: the stiff skin syndrome. (6514641)
1984
49
Subacute cutaneous lupus erythematosus. (6754230)
1982
50
Use of quantitative parasite inoculation doses in Plasmodium vivax malaria therapy. (20993368)
1946

Variations for Seckel Syndrome

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Expression for genes affiliated with Seckel Syndrome

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Search GEO for disease gene expression data for Seckel Syndrome.

Pathways for genes affiliated with Seckel Syndrome

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GO Terms for genes affiliated with Seckel Syndrome

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Biological processes related to Seckel Syndrome according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1DNA double-strand break processingGO:000072910.6DNA2, RBBP8
2DNA synthesis involved in DNA repairGO:000073110.5DNA2, RBBP8
3double-strand break repair via synthesis-dependent strand annealingGO:004500310.5DNA2, RBBP8
4protein localization to centrosomeGO:007153910.5MCPH1, STIL
5centriole replicationGO:000709910.5CDK5RAP2, CENPJ, CEP152
6regulation of signal transduction by p53 class mediatorGO:190179610.4ATR, ATRIP, DNA2
7de novo centriole assemblyGO:009853510.4CEP63, PLK4
8interstrand cross-link repairGO:003629710.3ATR, ATRIP
9DNA damage checkpointGO:000007710.3ATR, ATRIP, CEP63
10double-strand break repair via homologous recombinationGO:000072410.2ATR, ATRIP, DNA2, RBBP8
11mitotic nuclear divisionGO:00070679.9CASC5, CEP63, RBBP8
12DNA replicationGO:00062609.3ATR, ATRIP, DNA2, LIG4, RBBP8
13mitotic cell cycleGO:00002789.2CDK5RAP2, CENPE, CEP135, CEP152, CEP63, DNA2
14cell divisionGO:00513019.0CASC5, CDK6, CENPE, CENPJ, CEP63, LIG4

Sources for Seckel Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet