Seckel Syndrome 7 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SCKL7 MCID: SCK029 MIFTS: 36	Seckel Syndrome 7 (SCKL7) Categories: Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Seckel Syndrome 7

MalaCards integrated aliases for Seckel Syndrome 7:

Name: Seckel Syndrome 7 ⁵⁶ ¹² ⁷³ ²⁹ ¹³ ⁶ ¹⁵ ⁷¹

Sckl7 ⁵⁶ ¹² ⁷³

Microcephalic Primordial Dwarfism, Dauber Type ⁵⁸

Seckel Syndrome, Type 7 ³⁹

Characteristics:

Orphanet epidemiological data:

⁵⁸

microcephalic primordial dwarfism, dauber type
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
based on report of 2 sisters (last curated october 2012)

HPO:

³¹

seckel syndrome 7:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Bone diseases Smell/Taste diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly associated with short stature

Orphanet: ⁵⁸

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0070011

OMIM ⁵⁶ 614851

OMIM Phenotypic Series ⁵⁶ PS210600

MeSH ⁴³ D004392 D008831

ICD10 via Orphanet ³³ Q87.1

Orphanet ⁵⁸ ORPHA319675

MedGen ⁴¹ C3553870 CN158704

UMLS ⁷¹ C3553870

Sources

Summaries for Seckel Syndrome 7

UniProtKB/Swiss-Prot : ⁷³ Seckel syndrome 7: A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation.

MalaCards based summary : Seckel Syndrome 7, also known as sckl7, is related to joubert syndrome 4 and joubert syndrome 3, and has symptoms including seizures An important gene associated with Seckel Syndrome 7 is NIN (Ninein). Affiliated tissues include bone, breast and uterus, and related phenotypes are global developmental delay and delayed skeletal maturation

Disease Ontology : ¹² A Seckel syndrome that has material basis in compound heterozygous mutation in the NIN gene on chromosome 14q22.

More information from OMIM: 614851 PS210600

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Related Diseases for Seckel Syndrome 7

Diseases in the Seckel Syndrome family:

Seckel Syndrome 1	Seckel Syndrome 2
Seckel Syndrome 4	Seckel Syndrome 5
Seckel Syndrome 6	Seckel Syndrome 7
Seckel Syndrome 8	Seckel Syndrome 9
Seckel Syndrome 10

Diseases related to Seckel Syndrome 7 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	joubert syndrome 4	10.0	DZANK1 CCDC120
2	joubert syndrome 3	9.9	DZANK1 CCDC120
3	retinitis pigmentosa 54	9.8	POC1B DZANK1 CCDC120
4	cone-rod dystrophy 16	9.8	POC1B DZANK1 CCDC120
5	isolated growth hormone deficiency, type ia	9.8	POC1B NIN
6	joubert syndrome 23	9.5	KIF24 DZANK1 CCDC120
7	joubert syndrome 1	7.3	POC1B NIN NEDD1 KIF24 DZANK1 CEP350
8	cone-rod dystrophy 20	7.1	POC1B NEDD1 KIF24 DZANK1 CEP350 CEP19
9	orofaciodigital syndrome ix	7.1	POC1B NEDD1 KIF24 DZANK1 CEP350 CEP19

Graphical network of the top 20 diseases related to Seckel Syndrome 7:

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Symptoms & Phenotypes for Seckel Syndrome 7

Human phenotypes related to Seckel Syndrome 7:

⁵⁸ ³¹ (show all 29)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	global developmental delay ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001263
2	delayed skeletal maturation ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002750
3	hip dysplasia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001385
4	microtia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0008551
5	microcephaly ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000252
6	short stature ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0004322
7	intellectual disability, severe ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0010864
8	primary amenorrhea ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000786
9	obesity ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001513
10	madelung deformity ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003067
11	clinodactyly of the 5th finger ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0004209
12	hypotelorism ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000601
13	severe postnatal growth retardation ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0008850
14	prominent nose ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000448
15	limb undergrowth ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0009826
16	severe intrauterine growth retardation ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0008846
17	subglottic stenosis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001607
18	abnormality of the carpal bones ⁵⁸ ³¹	occasional (7.5%)	Frequent (79-30%)	HP:0001191
19	short middle phalanx of the 5th finger ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0004220
20	bilateral breast hypoplasia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0012814
21	lumbar scoliosis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0004626
22	seizure ³¹	frequent (33%)		HP:0001250
23	seizures ⁵⁸		Frequent (79-30%)
24	intrauterine growth retardation ³¹			HP:0001511
25	severe global developmental delay ³¹			HP:0011344
26	severe short stature ³¹			HP:0003510
27	hypoplasia of the uterus ³¹			HP:0000013
28	clinodactyly ³¹			HP:0030084
29	central hypothyroidism ³¹			HP:0011787

Symptoms via clinical synopsis from OMIM:

⁵⁶

Neurologic Central Nervous System:
seizures
mental retardation, severe
developmental delay, significant

Genitourinary Internal Genitalia Female:
primary amenorrhea
small ovaries
small uterus (prepubertal size)

Head And Neck Eyes:
hypotelorism

Head And Neck Ears:
small ears

Head And Neck Head:
microcephaly, severe

Skeletal Hands:
clinodactyly, fifth finger
short fifth middle phalanx (in some patients)
abnormal carpal bones (in some patients)

Chest Breasts:
prepubertal breast development

Skeletal Spine:
lumbar scoliosis, mild

Growth Other:
intrauterine growth retardation

Endocrine Features:
primary amenorrhea
normal luteinizing hormone (lh)
normal follicle-stimulating hormone (fsh)
modestly low estradiol
central hypothyroidism, borderline
more

Head And Neck Nose:
prominent nose

Growth Height:
short stature, severe

Skeletal Skull:
microcephaly, severe

Skeletal Pelvis:
hip dysplasia, bilateral

Skeletal:
delayed bone age (2 to 3 years) during childhood

Skeletal Limbs:
foreshortened ulna (madelung deformity)

Clinical features from OMIM:

614851

UMLS symptoms related to Seckel Syndrome 7:

seizures

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Drugs & Therapeutics for Seckel Syndrome 7

Search Clinical Trials , NIH Clinical Center for Seckel Syndrome 7

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Genetic Tests for Seckel Syndrome 7

Genetic tests related to Seckel Syndrome 7:

#	Genetic test	Affiliating Genes
1	Seckel Syndrome 7 ²⁹	NIN

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Anatomical Context for Seckel Syndrome 7

MalaCards organs/tissues related to Seckel Syndrome 7:

⁴⁰

Bone, Breast, Uterus, Ovary

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Publications for Seckel Syndrome 7

Articles related to Seckel Syndrome 7:

#	Title	Authors	PMID	Year
1	Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein. ⁵⁶ ⁶	Dauber A...Hwa V	22933543	2012
2	Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY ⁶¹ ⁶	Verloes A...Passemard S	20301772	2009

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Genes for Seckel Syndrome 7

Genes related to Seckel Syndrome 7 (1 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	NIN	Ninein	Protein Coding	1723.18	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ Unconfirmed association ⁵⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	22933543 20301772
2	DZANK1	Double Zinc Ribbon And Ankyrin Repeat Domains 1	Protein Coding	6.19	DISEASES inferred ¹⁵
3	CCDC120	Coiled-Coil Domain Containing 120	Protein Coding	6.07	DISEASES inferred ¹⁵
4	CEP128	Centrosomal Protein 128	Protein Coding	5.47	DISEASES inferred ¹⁵
5	POC1B	POC1 Centriolar Protein B	Protein Coding	5.42	DISEASES inferred ¹⁵
6	CEP19	Centrosomal Protein 19	Protein Coding	5.4	DISEASES inferred ¹⁵
7	NEDD1	NEDD1 Gamma-Tubulin Ring Complex Targeting Factor	Protein Coding	5.35	DISEASES inferred ¹⁵
8	CEP162	Centrosomal Protein 162	Protein Coding	5.34	DISEASES inferred ¹⁵
9	CCDC68	Coiled-Coil Domain Containing 68	Protein Coding	5.33	DISEASES inferred ¹⁵
10	KIF24	Kinesin Family Member 24	Protein Coding	5.32	DISEASES inferred ¹⁵
11	CEP350	Centrosomal Protein 350	Protein Coding	5.31	DISEASES inferred ¹⁵

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Variations for Seckel Syndrome 7

ClinVar genetic disease variations for Seckel Syndrome 7:

⁶ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	NIN	NM_016350.4(NIN):c.2987A>G (p.Asn996Ser)	SNV	Pathogenic	37291	rs387907308	14:51211022-51211022	14:50744304-50744304
2	NIN	NM_020921.3(NIN):c.2482del (p.Arg828fs)	deletion	Pathogenic	211602	rs747680111	14:51225266-51225266	14:50758548-50758548
3	NIN	NM_016350.4(NIN):c.3976C>T (p.Arg1326Ter)	SNV	Likely pathogenic	804469		14:51192748-51192748	14:50726030-50726030
4	NIN	NM_020921.3(NIN):c.3665A>G (p.Gln1222Arg)	SNV	Likely benign	37290	rs187464517	14:51224083-51224083	14:50757365-50757365
5	NIN	NM_020921.3(NIN):c.5800C>G (p.Gln1934Glu)	SNV	Benign	129798	rs2295847	14:51202311-51202311	14:50735593-50735593
6	NIN	NM_016350.4(NIN):c.2400-2204G>A	SNV	Benign	194884	rs2073347	14:51223789-51223789	14:50757071-50757071
7	NIN	NM_016350.4(NIN):c.2399+2201A>C	SNV	Benign	281107	rs12882191	14:51224374-51224374	14:50757656-50757656

UniProtKB/Swiss-Prot genetic disease variations for Seckel Syndrome 7:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	NIN	p.Gln1222Arg	VAR_069083	rs187464517
2	NIN	p.Asn1709Ser	VAR_069084	rs387907308

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Expression for Seckel Syndrome 7

Search GEO for disease gene expression data for Seckel Syndrome 7.

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Pathways for Seckel Syndrome 7

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GO Terms for Seckel Syndrome 7

Cellular components related to Seckel Syndrome 7 according to GeneCards Suite gene sharing:

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasm	GO:0005737	10.1	POC1B NIN NEDD1 KIF24 CEP350 CEP19
2	cell projection	GO:0042995	9.81	POC1B CEP350 CEP19 CCDC120
3	centrosome	GO:0005813	9.8	POC1B NIN NEDD1 CEP350 CEP19 CEP162
4	microtubule organizing center	GO:0005815	9.77	POC1B NIN NEDD1 CEP350 CEP128
5	microtubule	GO:0005874	9.65	NIN KIF24 CEP162
6	spindle pole	GO:0000922	9.65	POC1B NIN NEDD1 CEP19 CEP128
7	cytoskeleton	GO:0005856	9.65	POC1B NIN NEDD1 KIF24 CEP350 CEP19
8	ciliary basal body	GO:0036064	9.61	POC1B NEDD1 CEP19
9	apical part of cell	GO:0045177	9.49	NIN NEDD1
10	pericentriolar material	GO:0000242	9.46	NIN NEDD1
11	centriolar subdistal appendage	GO:0120103	9.46	NIN CEP128 CCDC68 CCDC120
12	centriole	GO:0005814	9.32	POC1B NIN NEDD1 KIF24 CEP350 CEP19

Biological processes related to Seckel Syndrome 7 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cilium assembly	GO:0060271	9.56	POC1B KIF24 CEP19 CEP162
2	ciliary basal body-plasma membrane docking	GO:0097711	9.5	NEDD1 KIF24 CEP162
3	cell projection organization	GO:0030030	9.46	POC1B KIF24 CEP19 CEP162
4	protein localization	GO:0008104	9.26	NIN CEP128 CCDC68 CCDC120
5	microtubule anchoring at centrosome	GO:0034454	8.92	NIN CEP19 CCDC68 CCDC120

Sources

Sources for Seckel Syndrome 7

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 EFO

¹⁸ ExPASy

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 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

Seckel Syndrome 7 (SCKL7)

Aliases & Classifications for Seckel Syndrome 7

MalaCards integrated aliases for Seckel Syndrome 7:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Seckel Syndrome 7

Related Diseases for Seckel Syndrome 7

Diseases in the Seckel Syndrome family:

Diseases related to Seckel Syndrome 7 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Seckel Syndrome 7:

Symptoms & Phenotypes for Seckel Syndrome 7

Human phenotypes related to Seckel Syndrome 7:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Seckel Syndrome 7:

Drugs & Therapeutics for Seckel Syndrome 7

Genetic Tests for Seckel Syndrome 7

Genetic tests related to Seckel Syndrome 7:

Anatomical Context for Seckel Syndrome 7

MalaCards organs/tissues related to Seckel Syndrome 7:

Publications for Seckel Syndrome 7

Articles related to Seckel Syndrome 7:

Genes for Seckel Syndrome 7

Genes related to Seckel Syndrome 7 (1 elite genes):

Variations for Seckel Syndrome 7

ClinVar genetic disease variations for Seckel Syndrome 7:

UniProtKB/Swiss-Prot genetic disease variations for Seckel Syndrome 7:

Expression for Seckel Syndrome 7

Pathways for Seckel Syndrome 7

GO Terms for Seckel Syndrome 7

Cellular components related to Seckel Syndrome 7 according to GeneCards Suite gene sharing:

Biological processes related to Seckel Syndrome 7 according to GeneCards Suite gene sharing:

Sources for Seckel Syndrome 7