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 58 12 76 30 6
Sckl9 58 12 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
seckel syndrome 9:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Seckel Syndrome 9

UniProtKB/Swiss-Prot : 76 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, cortex 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.

Description from OMIM: 616777

Related Diseases for Seckel Syndrome 9

Symptoms & Phenotypes for Seckel Syndrome 9

Human phenotypes related to Seckel Syndrome 9:

33 (show all 26)
# Description HPO Frequency HPO Source Accession
1 asthma 33 occasional (7.5%) HP:0002099
2 pulmonary artery hypoplasia 33 occasional (7.5%) HP:0004971
3 global developmental delay 33 very rare (1%) HP:0001263
4 recurrent respiratory infections 33 very rare (1%) HP:0002205
5 microcephaly 33 very rare (1%) HP:0000252
6 short stature 33 very rare (1%) HP:0004322
7 micrognathia 33 very rare (1%) HP:0000347
8 intrauterine growth retardation 33 very rare (1%) HP:0001511
9 protruding ear 33 very rare (1%) HP:0000411
10 ventriculomegaly 33 very rare (1%) HP:0002119
11 narrow face 33 very rare (1%) HP:0000275
12 long face 33 very rare (1%) HP:0000276
13 scaphocephaly 33 very rare (1%) HP:0030799
14 simplified gyral pattern 33 very rare (1%) HP:0009879
15 atrial septal defect 33 HP:0001631
16 talipes equinovarus 33 HP:0001762
17 polyhydramnios 33 HP:0001561
18 ventricular septal defect 33 HP:0001629
19 recurrent urinary tract infections 33 HP:0000010
20 convex nasal ridge 33 HP:0000444
21 decreased fetal movement 33 HP:0001558
22 ambiguous genitalia 33 HP:0000062
23 congenital diaphragmatic hernia 33 HP:0000776
24 small for gestational age 33 HP:0001518
25 clitoral hypertrophy 33 HP:0008665
26 hypertrichosis 33 HP:0000998

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
microcephaly
scaphocephaly (in some patients)

Growth Height:
short stature

Growth Other:
intrauterine growth retardation

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Genitourinary External Genitalia Male:
ambiguous genitalia
urogenital sinus

Skin Nails Hair Hair:
hypertrichosis

Head And Neck Ears:
prominent ears

Skeletal Feet:
club feet

Chest Diaphragm:
diaphragmatic hernia

Prenatal Manifestations Movement:
decreased fetal movements

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

Skeletal Skull:
microcephaly
scaphocephaly (in some patients)

Head And Neck Face:
micrognathia
long narrow face

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

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

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)

Genitourinary Internal Genitalia Male:
agonadism

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 30 TRAIP

Anatomical Context for Seckel Syndrome 9

MalaCards organs/tissues related to Seckel Syndrome 9:

42
Kidney, Cortex, Bone

Publications for Seckel Syndrome 9

Articles related to Seckel Syndrome 9:

# Title Authors Year
1
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. ( 26595769 )
2016

Variations for Seckel Syndrome 9

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

76
# Symbol AA change Variation ID SNP ID
1 TRAIP p.Arg18Cys VAR_076530 rs864622784

ClinVar genetic disease variations for Seckel Syndrome 9:

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

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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