Seckel Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Seckel Syndrome 2

MalaCards integrated aliases for Seckel Syndrome 2:

Name: Seckel Syndrome 2 ⁵⁷ ¹² ⁷⁵ ²⁹ ¹³ ⁶ ⁷³

Microcephalic Primordial Dwarfism 2 ⁵⁷ ¹² ⁷⁵

Seckel-Type Dwarfism 2 ⁵⁷ ¹² ⁷⁵

Sckl2 ⁵⁷ ¹² ⁷⁵

Seckel Syndrome, Type 2 ⁴⁰

Bird-Headed Dwarfism 2 ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

HPO:

³²

seckel syndrome 2:
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)

External Ids:

OMIM ⁵⁷ 606744

Disease Ontology ¹² DOID:0070013

MedGen ⁴² C1847572

MeSH ⁴⁴ D004392 D008831

UMLS ⁷³ C1847572

Sources

Summaries for Seckel Syndrome 2

OMIM : ⁵⁷ Seckel syndrome is a rare autosomal recessive disorder characterized by growth retardation, microcephaly with mental retardation, and a characteristic facial appearance (Borglum et al., 2001). For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (210600). (606744)

MalaCards based summary : Seckel Syndrome 2, is also known as microcephalic primordial dwarfism 2. An important gene associated with Seckel Syndrome 2 is RBBP8 (RB Binding Protein 8, Endonuclease). Affiliated tissues include kidney, bone and heart, and related phenotypes are microcephaly and micrognathia

Disease Ontology : ¹² A Seckel syndrome that has material basis in homozygous mutation in the RBBP8 gene on chromosome 18q11.

UniProtKB/Swiss-Prot : ⁷⁵ Seckel syndrome 2: 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.

Sources

Related Diseases for Seckel Syndrome 2

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 2

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Head:
microcephaly
micrognathia

Head And Neck Eyes:
microphthalmia

Head And Neck Nose:
prominent nose

Cardiovascular Heart:
heart murmur

Voice:
high-pitched voice

Skin Nails Hair Skin:
cafe au lait spots

Growth Height:
proportionate short stature at birth

Genitourinary External Genitalia Male:
mild hypospadias

Skeletal Hands:
swelling over proximal part of middle phalanx of second, third, and fourth fingers
clinodactyly of fifth finger
absence of epiphyseal ossification centers of distal and middle phalangeal bones of fifth finger
synostosis of distal interphalangeal joint of fifth finger

Skeletal Skull:
microcephaly
short anterior cranial base
short maxillary length

Neurologic Central Nervous System:
mild global developmental delay
mild cerebellar hypoplasia
bilateral calcification of basal ganglia and cerebellum

Head And Neck Mouth:
microglossia

Head And Neck Teeth:
small teeth

Growth Weight:
low birth weight
underweight

Skeletal Limbs:
slender extremities

Growth Other:
persistent growth deficiency

Genitourinary Kidneys:
ectopic kidneys (rare)

Clinical features from OMIM:

606744

Human phenotypes related to Seckel Syndrome 2:

³² (show all 17)

#	Description	HPO Frequency	HPO Source Accession
1	microcephaly ³²		HP:0000252
2	micrognathia ³²		HP:0000347
3	ectopic kidney ³²	occasional (7.5%)	HP:0000086
4	microdontia ³²		HP:0000691
5	growth delay ³²		HP:0001510
6	cerebellar hypoplasia ³²		HP:0001321
7	microphthalmia ³²		HP:0000568
8	hypospadias ³²		HP:0000047
9	clinodactyly of the 5th finger ³²		HP:0004209
10	high pitched voice ³²	very rare (1%)	HP:0001620
11	mild global developmental delay ³²		HP:0011342
12	prominent nose ³²		HP:0000448
13	small for gestational age ³²		HP:0001518
14	microglossia ³²		HP:0000171
15	heart murmur ³²		HP:0030148
16	narrow forehead ³²		HP:0000341
17	few cafe-au-lait spots ³²		HP:0007429

Sources

Drugs & Therapeutics for Seckel Syndrome 2

Search Clinical Trials , NIH Clinical Center for Seckel Syndrome 2

Sources

Genetic Tests for Seckel Syndrome 2

Genetic tests related to Seckel Syndrome 2:

#	Genetic test	Affiliating Genes
1	Seckel Syndrome 2 ²⁹	RBBP8

Sources

Anatomical Context for Seckel Syndrome 2

MalaCards organs/tissues related to Seckel Syndrome 2:

⁴¹

Kidney, Bone, Heart, Cerebellum

Sources

Publications for Seckel Syndrome 2

Sources

Genes for Seckel Syndrome 2

Genes related to Seckel Syndrome 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	RBBP8	RB Binding Protein 8, Endonuclease	Protein Coding	1336.92	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Gene name Variants (show sections)	11781686 21998596 20301772 (more) 24389050

Sources

Variations for Seckel Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Seckel Syndrome 2:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	RBBP8	p.Arg100Trp	VAR_075824	rs373804633

ClinVar genetic disease variations for Seckel Syndrome 2:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	RBBP8	NM_002894.2(RBBP8): c.2287+53T> G	single nucleotide variant	Pathogenic	rs587776883	GRCh38	Chromosome 18, 23001782: 23001782
2	RBBP8	NM_002894.2(RBBP8): c.2287+53T> G	single nucleotide variant	Pathogenic	rs587776883	GRCh37	Chromosome 18, 20581745: 20581745
3	RBBP8	NM_002894.2(RBBP8): c.298C> T (p.Arg100Trp)	single nucleotide variant	Pathogenic	rs373804633	GRCh38	Chromosome 18, 22968855: 22968855
4	RBBP8	NM_002894.2(RBBP8): c.298C> T (p.Arg100Trp)	single nucleotide variant	Pathogenic	rs373804633	GRCh37	Chromosome 18, 20548818: 20548818
5	RBBP8	NM_002894.2(RBBP8): c.604+1G> T	single nucleotide variant	Pathogenic	rs587780432	GRCh38	Chromosome 18, 22982394: 22982394
6	RBBP8	NM_002894.2(RBBP8): c.604+1G> T	single nucleotide variant	Pathogenic	rs587780432	GRCh37	Chromosome 18, 20562357: 20562357

Sources

Expression for Seckel Syndrome 2

Search GEO for disease gene expression data for Seckel Syndrome 2.

Sources

Pathways for Seckel Syndrome 2

Sources

GO Terms for Seckel Syndrome 2

Sources

Sources for Seckel Syndrome 2

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