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

Sources

Aliases & Classifications for Seckel Syndrome 7

MalaCards integrated aliases for Seckel Syndrome 7:

Name: Seckel Syndrome 7 ⁵⁷ ¹² ⁷⁵ ²⁹ ¹³ ⁶ ⁷³

Sckl7 ⁵⁷ ¹² ⁷⁵

Microcephalic Primordial Dwarfism, Dauber Type ⁵⁹

Seckel Syndrome, Type 7 ⁴⁰

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

Inheritance:
autosomal recessive

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

HPO:

³²

seckel syndrome 7:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

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: ⁵⁹

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 614851

Disease Ontology ¹² DOID:0070011

Orphanet ⁵⁹ ORPHA319675

ICD10 via Orphanet ³⁴ Q87.1

MedGen ⁴² C3553870 CN158704

MeSH ⁴⁴ D004392 D008831

UMLS ⁷³ C3553870

Sources

Summaries for Seckel Syndrome 7

UniProtKB/Swiss-Prot : ⁷⁵ 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, is also known as sckl7, and has symptoms including seizures An important gene associated with Seckel Syndrome 7 is NIN (Ninein). Affiliated tissues include bone, uterus and ovary, and related phenotypes are seizures and hip dysplasia

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

Description from OMIM: 614851

Sources

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

Sources

Symptoms & Phenotypes for Seckel Syndrome 7

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Human phenotypes related to Seckel Syndrome 7:

³² (show all 17)

#	Description	HPO Frequency	HPO Source Accession
1	seizures ³²		HP:0001250
2	hip dysplasia ³²		HP:0001385
3	delayed skeletal maturation ³²		HP:0002750
4	microtia ³²		HP:0008551
5	microcephaly ³²		HP:0000252
6	intellectual disability, severe ³²		HP:0010864
7	severe global developmental delay ³²		HP:0011344
8	intrauterine growth retardation ³²		HP:0001511
9	primary amenorrhea ³²		HP:0000786
10	madelung deformity ³²		HP:0003067
11	severe short stature ³²		HP:0003510
12	hypotelorism ³²		HP:0000601
13	prominent nose ³²		HP:0000448
14	hypoplasia of the uterus ³²		HP:0000013
15	abnormality of the carpal bones ³²	occasional (7.5%)	HP:0001191
16	central hypothyroidism ³²		HP:0011787
17	lumbar scoliosis ³²		HP:0004626

UMLS symptoms related to Seckel Syndrome 7:

seizures

Sources

Drugs & Therapeutics for Seckel Syndrome 7

Search Clinical Trials , NIH Clinical Center for Seckel Syndrome 7

Sources

Genetic Tests for Seckel Syndrome 7

Genetic tests related to Seckel Syndrome 7:

#	Genetic test	Affiliating Genes
1	Seckel Syndrome 7 ²⁹	NIN

Sources

Anatomical Context for Seckel Syndrome 7

MalaCards organs/tissues related to Seckel Syndrome 7:

⁴¹

Bone, Uterus, Ovary

Sources

Publications for Seckel Syndrome 7

Sources

Genes for Seckel Syndrome 7

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

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	NIN	Ninein	Protein Coding	1727.7	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)	22933543 20301772

Sources

Variations for Seckel Syndrome 7

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

⁷⁵

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

ClinVar genetic disease variations for Seckel Syndrome 7:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	NIN	NM_020921.3(NIN): c.3665A> G (p.Gln1222Arg)	single nucleotide variant	Pathogenic	rs187464517	GRCh37	Chromosome 14, 51224083: 51224083
2	NIN	NM_020921.3(NIN): c.3665A> G (p.Gln1222Arg)	single nucleotide variant	Pathogenic	rs187464517	GRCh38	Chromosome 14, 50757365: 50757365
3	NIN	NM_020921.3(NIN): c.5126A> G (p.Asn1709Ser)	single nucleotide variant	Pathogenic	rs387907308	GRCh37	Chromosome 14, 51211022: 51211022
4	NIN	NM_020921.3(NIN): c.5126A> G (p.Asn1709Ser)	single nucleotide variant	Pathogenic	rs387907308	GRCh38	Chromosome 14, 50744304: 50744304
5	NIN	NM_020921.3(NIN): c.2482delA (p.Arg828Glyfs)	deletion	Pathogenic	rs747680111	GRCh38	Chromosome 14, 50758548: 50758548
6	NIN	NM_020921.3(NIN): c.2482delA (p.Arg828Glyfs)	deletion	Pathogenic	rs747680111	GRCh37	Chromosome 14, 51225266: 51225266

Sources

Expression for Seckel Syndrome 7

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

Sources

Pathways for Seckel Syndrome 7

Sources

GO Terms for Seckel Syndrome 7

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 ExPASy

¹⁸ FDA Approved Drugs

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 HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

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 NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia