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

SCKL7 MCID: SCK029 MIFTS: 36	Seckel Syndrome 7 (SCKL7) Categories: Bone diseases, Eye 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 ⁵⁷ ¹² ⁷³ ²⁹ ¹³ ⁶ ¹⁵ ⁷¹

Sckl7 ⁵⁷ 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®:

⁵⁷ (Updated 05-Mar-2021)

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 Eye 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® ⁵⁷ 614851

OMIM Phenotypic Series ⁵⁷ PS210600

MeSH ⁴⁴ 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 23 and joubert syndrome 4, and has symptoms including seizures An important gene associated with Seckel Syndrome 7 is NIN (Ninein). Affiliated tissues include breast, uterus and bone, 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 23	10.1	DZANK1 CCDC120
2	joubert syndrome 4	10.0	DZANK1 CCDC120
3	joubert syndrome 3	10.0	DZANK1 CCDC120
4	retinitis pigmentosa 54	9.9	POC1B DZANK1 CCDC120
5	cone-rod dystrophy 16	9.9	POC1B DZANK1 CCDC120
6	isolated growth hormone deficiency, type ia	9.8	POC1B NIN
7	cone-rod dystrophy 2	9.4	POC1B DZANK1 CEP350 CEP19 CCDC120
8	cone-rod dystrophy 20	8.2	TUBE1 POC1B DZANK1 CEP350 CEP19 CEP162
9	joubert syndrome 1	8.0	TUBE1 TUBD1 POC1B NIN DZANK1 CEP350
10	orofaciodigital syndrome ix	7.9	TUBE1 TUBD1 POC1B DZANK1 CEP350 CEP19

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

Sources

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®:

⁵⁷ (Updated 05-Mar-2021)

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 (Updated 05-Mar-2021)

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

Breast, Uterus, Bone

Sources

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. ⁶ ⁵⁷	Dauber A...Hwa V	22933543	2012
2	Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY ⁶¹	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	PubMed IDs
1	NIN	Ninein	Protein Coding	1748.66	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	22933543
2	CCDC120	Coiled-Coil Domain Containing 120	Protein Coding	6.33	DISEASES inferred ¹⁵
3	DZANK1	Double Zinc Ribbon And Ankyrin Repeat Domains 1	Protein Coding	6.14	DISEASES inferred ¹⁵
4	CEP128	Centrosomal Protein 128	Protein Coding	5.4	DISEASES inferred ¹⁵
5	POC1B	POC1 Centriolar Protein B	Protein Coding	5.38	DISEASES inferred ¹⁵
6	CCDC68	Coiled-Coil Domain Containing 68	Protein Coding	5.35	DISEASES inferred ¹⁵
7	CEP19	Centrosomal Protein 19	Protein Coding	5.35	DISEASES inferred ¹⁵
8	CEP162	Centrosomal Protein 162	Protein Coding	5.34	DISEASES inferred ¹⁵
9	CEP350	Centrosomal Protein 350	Protein Coding	5.28	DISEASES inferred ¹⁵
10	TUBE1	Tubulin Epsilon 1	Protein Coding	5.27	DISEASES inferred ¹⁵
11	TUBD1	Tubulin Delta 1	Protein Coding	5.27	DISEASES inferred ¹⁵

Sources

Variations for Seckel Syndrome 7

ClinVar genetic disease variations for Seckel Syndrome 7:

⁶ (show all 11)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	NIN	NM_020921.3(NIN):c.3665A>G (p.Gln1222Arg)	SNV	Pathogenic	37290	rs187464517	14:51224083-51224083	14:50757365-50757365
2	NIN	NM_016350.4(NIN):c.2987A>G (p.Asn996Ser)	SNV	Pathogenic	37291	rs387907308	14:51211022-51211022	14:50744304-50744304
3	NIN	NM_020921.3(NIN):c.2482del (p.Arg828fs)	Deletion	Pathogenic	211602	rs747680111	14:51225266-51225266	14:50758548-50758548
4	NIN	NM_016350.4(NIN):c.3976C>T (p.Arg1326Ter)	SNV	Likely pathogenic	804469	rs373844676	14:51192748-51192748	14:50726030-50726030
5	NIN	NM_020921.4(NIN):c.6079-1686G>A	SNV	Likely pathogenic	930474		14:51194470-51194470	14:50727752-50727752
6	NIN	NM_020921.4(NIN):c.5302G>T (p.Val1768Phe)	SNV	Uncertain significance	931903		14:51208446-51208446	14:50741728-50741728
7	NIN	NM_020921.4(NIN):c.349G>A (p.Val117Met)	SNV	Uncertain significance	931904		14:51259516-51259516	14:50792798-50792798
8	NIN	NM_020921.3(NIN):c.2041G>A (p.Gly681Arg)	SNV	Likely benign	790684	rs142733791	14:51226933-51226933	14:50760215-50760215
9	NIN	NM_020921.3(NIN):c.5800C>G (p.Gln1934Glu)	SNV	Benign	129798	rs2295847	14:51202311-51202311	14:50735593-50735593
10	NIN	NM_016350.4(NIN):c.2400-2204G>A	SNV	Benign	194884	rs2073347	14:51223789-51223789	14:50757071-50757071
11	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:

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasm	GO:0005737	10.13	TUBE1 TUBD1 POC1B NIN CEP350 CEP19
2	cell projection	GO:0042995	9.88	TUBD1 POC1B CEP350 CEP19 CCDC120
3	centrosome	GO:0005813	9.77	POC1B NIN CEP350 CEP19 CEP162
4	microtubule organizing center	GO:0005815	9.72	TUBE1 POC1B NIN CEP350 CEP128
5	microtubule	GO:0005874	9.71	TUBE1 TUBD1 NIN CEP162
6	cytoskeleton	GO:0005856	9.65	TUBE1 TUBD1 POC1B NIN CEP350 CEP19
7	spindle pole	GO:0000922	9.56	POC1B NIN CEP19 CEP128
8	pericentriolar material	GO:0000242	9.46	TUBE1 NIN
9	centriolar subdistal appendage	GO:0120103	9.46	NIN CEP128 CCDC68 CCDC120
10	centriole	GO:0005814	9.28	TUBD1 POC1B NIN CEP350 CEP19 CEP162

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

#	Name	GO ID	Score	Top Affiliating Genes
1	cell projection organization	GO:0030030	9.46	TUBD1 POC1B CEP19 CEP162
2	cilium assembly	GO:0060271	9.43	POC1B CEP19 CEP162
3	microtubule-based process	GO:0007017	9.32	TUBE1 TUBD1
4	protein localization	GO:0008104	9.26	NIN CEP128 CCDC68 CCDC120
5	microtubule anchoring at centrosome	GO:0034454	8.92	NIN CEP19 CCDC68 CCDC120

Molecular functions related to Seckel Syndrome 7 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	GTP binding	GO:0005525	8.8	TUBE1 TUBD1 NIN

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 GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

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 MedlinePlus Genetics

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 NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

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:

Molecular functions related to Seckel Syndrome 7 according to GeneCards Suite gene sharing:

Sources for Seckel Syndrome 7