SCKL9
MCID: SCK037
MIFTS: 23

Seckel Syndrome 9 (SCKL9)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Seckel Syndrome 9

MalaCards integrated aliases for Seckel Syndrome 9:

Name: Seckel Syndrome 9 57 12 74 29 6
Sckl9 57 12 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
patients may die in infancy or childhood due to respiratory failure


HPO:

32
seckel syndrome 9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070005

Summaries for Seckel Syndrome 9

UniProtKB/Swiss-Prot : 74 Seckel syndrome 9: A form of Seckel syndrome, 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 9, is also known as sckl9. An important gene associated with Seckel Syndrome 9 is TRAIP (TRAF Interacting Protein). Affiliated tissues include kidney and cortex, and related phenotypes are asthma and pulmonary artery hypoplasia

Disease Ontology : 12 A Seckel syndrome that has material basis in homozygous mutation in the TRAIP gene on chromosome 3p21.

More information from OMIM: 616777 PS210600

Related Diseases for Seckel Syndrome 9

Symptoms & Phenotypes for Seckel Syndrome 9

Human phenotypes related to Seckel Syndrome 9:

32 (show all 27)
# Description HPO Frequency HPO Source Accession
1 asthma 32 occasional (7.5%) HP:0002099
2 pulmonary artery hypoplasia 32 occasional (7.5%) HP:0004971
3 global developmental delay 32 very rare (1%) HP:0001263
4 recurrent respiratory infections 32 very rare (1%) HP:0002205
5 microcephaly 32 very rare (1%) HP:0000252
6 short stature 32 very rare (1%) HP:0004322
7 micrognathia 32 very rare (1%) HP:0000347
8 protruding ear 32 very rare (1%) HP:0000411
9 intrauterine growth retardation 32 very rare (1%) HP:0001511
10 ventriculomegaly 32 very rare (1%) HP:0002119
11 narrow face 32 very rare (1%) HP:0000275
12 long face 32 very rare (1%) HP:0000276
13 scaphocephaly 32 very rare (1%) HP:0030799
14 simplified gyral pattern 32 very rare (1%) HP:0009879
15 recurrent urinary tract infections 32 HP:0000010
16 atrial septal defect 32 HP:0001631
17 talipes equinovarus 32 HP:0001762
18 polyhydramnios 32 HP:0001561
19 ventricular septal defect 32 HP:0001629
20 congenital diaphragmatic hernia 32 HP:0000776
21 decreased fetal movement 32 HP:0001558
22 convex nasal ridge 32 HP:0000444
23 ambiguous genitalia 32 HP:0000062
24 hypertrichosis 32 HP:0000998
25 small for gestational age 32 HP:0001518
26 clitoral hypertrophy 32 HP:0008665
27 agonadism 32 HP:0008633

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly
scaphocephaly (in some patients)

Growth Height:
short stature

Genitourinary Kidneys:
recurrent urinary tract infections
enlarged kidneys
multiple calyceal cysts

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Genitourinary External Genitalia Male:
ambiguous genitalia
urogenital sinus

Genitourinary External Genitalia Female:
clitoral hypertrophy
underdeveloped labial folds

Head And Neck Nose:
beaked nose

Growth Weight:
low birth weight

Neurologic Central Nervous System:
enlarged ventricular system
developmental delay, mild to moderate
simplified gyri
reduced cerebral cortex

Respiratory Lung:
recurrent severe infections
asthma (rare)

Cardiovascular Vascular:
pulmonary artery hypoplasia, severe (in some patients)

Skeletal Skull:
microcephaly
scaphocephaly (in some patients)

Head And Neck Face:
micrognathia
long narrow face

Growth Other:
intrauterine growth retardation

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skin Nails Hair Hair:
hypertrichosis

Genitourinary Internal Genitalia Male:
agonadism

Head And Neck Ears:
prominent ears

Skeletal Feet:
club feet

Chest Diaphragm:
diaphragmatic hernia

Prenatal Manifestations Movement:
decreased fetal movements

Clinical features from OMIM:

616777

Drugs & Therapeutics for Seckel Syndrome 9

Search Clinical Trials , NIH Clinical Center for Seckel Syndrome 9

Genetic Tests for Seckel Syndrome 9

Genetic tests related to Seckel Syndrome 9:

# Genetic test Affiliating Genes
1 Seckel Syndrome 9 29 TRAIP

Anatomical Context for Seckel Syndrome 9

MalaCards organs/tissues related to Seckel Syndrome 9:

41
Kidney, Cortex

Publications for Seckel Syndrome 9

Articles related to Seckel Syndrome 9:

# Title Authors PMID Year
1
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. 8 71
26595769 2016
2
Low birth-weight, microcephalic malformation syndrome in a 46,XX girl and her 46,XY sister with agonadism: third report of the Kennerknecht syndrome or autosomal recessive Seckel-like syndrome with previously undescribed genital anomalies. 8
11424145 2001

Variations for Seckel Syndrome 9

ClinVar genetic disease variations for Seckel Syndrome 9:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TRAIP NM_005879.3(TRAIP): c.553C> T (p.Arg185Ter) single nucleotide variant Pathogenic rs767664526 3:49879323-49879323 3:49841890-49841890
2 TRAIP NM_005879.3(TRAIP): c.52C> T (p.Arg18Cys) single nucleotide variant Pathogenic rs864622784 3:49893835-49893835 3:49856402-49856402
3 TRAIP NM_005879.3(TRAIP): c.1306C> T (p.Arg436Cys) single nucleotide variant Uncertain significance 3:49866640-49866640 3:49829207-49829207

UniProtKB/Swiss-Prot genetic disease variations for Seckel Syndrome 9:

74
# Symbol AA change Variation ID SNP ID
1 TRAIP p.Arg18Cys VAR_076530 rs864622784

Expression for Seckel Syndrome 9

Search GEO for disease gene expression data for Seckel Syndrome 9.

Pathways for Seckel Syndrome 9

GO Terms for Seckel Syndrome 9

Sources for Seckel Syndrome 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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