SCKL9
MCID: SCK037
MIFTS: 24

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 56 12 73 29 6
Sckl9 56 12 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
seckel syndrome 9:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Seckel Syndrome 9

UniProtKB/Swiss-Prot : 73 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 cortex, kidney and bone, 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:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 asthma 31 occasional (7.5%) HP:0002099
2 pulmonary artery hypoplasia 31 occasional (7.5%) HP:0004971
3 global developmental delay 31 very rare (1%) HP:0001263
4 recurrent respiratory infections 31 very rare (1%) HP:0002205
5 short stature 31 very rare (1%) HP:0004322
6 micrognathia 31 very rare (1%) HP:0000347
7 intrauterine growth retardation 31 very rare (1%) HP:0001511
8 microcephaly 31 very rare (1%) HP:0000252
9 protruding ear 31 very rare (1%) HP:0000411
10 ventriculomegaly 31 very rare (1%) HP:0002119
11 narrow face 31 very rare (1%) HP:0000275
12 long face 31 very rare (1%) HP:0000276
13 scaphocephaly 31 very rare (1%) HP:0030799
14 simplified gyral pattern 31 very rare (1%) HP:0009879
15 ventricular septal defect 31 HP:0001629
16 polyhydramnios 31 HP:0001561
17 recurrent urinary tract infections 31 HP:0000010
18 atrial septal defect 31 HP:0001631
19 talipes equinovarus 31 HP:0001762
20 decreased fetal movement 31 HP:0001558
21 congenital diaphragmatic hernia 31 HP:0000776
22 convex nasal ridge 31 HP:0000444
23 ambiguous genitalia 31 HP:0000062
24 hypertrichosis 31 HP:0000998
25 small for gestational age 31 HP:0001518
26 clitoral hypertrophy 31 HP:0008665
27 agonadism 31 HP:0008633

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature

Growth Other:
intrauterine growth retardation

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

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

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)

Head And Neck Face:
micrognathia
long narrow face

Cardiovascular Heart:
ventricular septal defect
atrial septal defect

Skeletal Skull:
microcephaly
scaphocephaly (in some patients)

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

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:

40
Cortex, Kidney, Bone

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. 56 6
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. 56
11424145 2001

Variations for Seckel Syndrome 9

ClinVar genetic disease variations for Seckel Syndrome 9:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRAIP NM_005879.3(TRAIP):c.553C>T (p.Arg185Ter)SNV Pathogenic 221232 rs767664526 3:49879323-49879323 3:49841890-49841890
2 TRAIP NM_005879.3(TRAIP):c.52C>T (p.Arg18Cys)SNV Pathogenic 221233 rs864622784 3:49893835-49893835 3:49856402-49856402
3 TRAIP NM_005879.3(TRAIP):c.1306C>T (p.Arg436Cys)SNV Uncertain significance 587459 rs536675100 3:49866640-49866640 3:49829207-49829207

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

73
# 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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