MCID: SCT004
MIFTS: 22

Scott Bryant Graham Syndrome

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Scott Bryant Graham Syndrome

MalaCards integrated aliases for Scott Bryant Graham Syndrome:

Name: Scott Bryant Graham Syndrome 20 6 70
Craniodigital-Intellectual Disability Syndrome 20 58
Scott Craniodigital Syndrome 20 58
Scott-Bryant-Graham Syndrome 20 58
Craniodigital Syndrome-Intellectual Disability Syndrome 20

Characteristics:

Orphanet epidemiological data:

58
craniodigital-intellectual disability syndrome
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q87.0
UMLS via Orphanet 71 C1839311
Orphanet 58 ORPHA1514
UMLS 70 C1839311

Summaries for Scott Bryant Graham Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1514 Definition Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit. Epidemiology Less than 10 cases have been described in the literature so far. Clinical description Abnormal dermatoglyphic patterns, growth retardation and brachycephaly have also been reported. Genetic counseling Transmission appears to be autosomal or X-linked recessive.

MalaCards based summary : Scott Bryant Graham Syndrome, also known as craniodigital-intellectual disability syndrome, is related to filippi syndrome. An important gene associated with Scott Bryant Graham Syndrome is CKAP2L (Cytoskeleton Associated Protein 2 Like). Related phenotypes are intellectual disability and short nose

Related Diseases for Scott Bryant Graham Syndrome

Diseases related to Scott Bryant Graham Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 filippi syndrome 31.5 NT5DC4 CKAP2L

Symptoms & Phenotypes for Scott Bryant Graham Syndrome

Human phenotypes related to Scott Bryant Graham Syndrome:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
3 thick eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0000574
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
6 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
7 abnormal dermatoglyphics 58 31 hallmark (90%) Very frequent (99-80%) HP:0007477
8 generalized hirsutism 58 31 hallmark (90%) Very frequent (99-80%) HP:0002230
9 finger syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0006101
10 narrow nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000446
11 abnormal hair pattern 58 31 hallmark (90%) Very frequent (99-80%) HP:0010720
12 long eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0000527
13 thick hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0100874
14 spina bifida occulta 58 31 occasional (7.5%) Occasional (29-5%) HP:0003298

Drugs & Therapeutics for Scott Bryant Graham Syndrome

Search Clinical Trials , NIH Clinical Center for Scott Bryant Graham Syndrome

Genetic Tests for Scott Bryant Graham Syndrome

Anatomical Context for Scott Bryant Graham Syndrome

Publications for Scott Bryant Graham Syndrome

Articles related to Scott Bryant Graham Syndrome:

# Title Authors PMID Year
1
Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome. 6
25439729 2014
2
Filippi syndrome: further clinical characterization. 6
18553552 2008
3
Filippi syndrome: two cases with ectodermal features, expanding the phenotype. 6
15365457 2004
4
Filippi syndrome with mild learning difficulties. 6
8867657 1996
5
Craniodigital syndromes: report of a child with Filippi syndrome and discussion of differential diagnosis. 61
7717418 1995

Variations for Scott Bryant Graham Syndrome

ClinVar genetic disease variations for Scott Bryant Graham Syndrome:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CKAP2L NM_001304361.2(CKAP2L):c.-280-59_-11del Deletion Pathogenic 162388 rs1553442237 GRCh37: 2:113514463-113514791
GRCh38: 2:112756886-112757214
2 CKAP2L NM_152515.5(CKAP2L):c.751del (p.Ser251fs) Deletion Pathogenic 162387 rs727502804 GRCh37: 2:113514197-113514197
GRCh38: 2:112756620-112756620
3 CKAP2L NM_152515.5(CKAP2L):c.554_555del (p.Lys185fs) Deletion Pathogenic 162389 rs727502805 GRCh37: 2:113514393-113514394
GRCh38: 2:112756816-112756817
4 CKAP2L NM_152515.5(CKAP2L):c.2T>C (p.Met1Thr) SNV Pathogenic 162385 rs548949031 GRCh37: 2:113522174-113522174
GRCh38: 2:112764597-112764597
5 CKAP2L NM_152515.5(CKAP2L):c.571dup (p.Ile191fs) Duplication Pathogenic 162384 rs727502802 GRCh37: 2:113514376-113514377
GRCh38: 2:112756799-112756800
6 CKAP2L NM_152515.5(CKAP2L):c.78_79insTT (p.Gly27fs) Insertion Pathogenic 162386 rs727502803 GRCh37: 2:113520105-113520106
GRCh38: 2:112762528-112762529
7 NT5DC4 , CKAP2L NM_152515.5(CKAP2L):c.1822+1G>A SNV Pathogenic 984719 GRCh37: 2:113500282-113500282
GRCh38: 2:112742705-112742705
8 CKAP2L NM_152515.5(CKAP2L):c.548_551CAAA[1] (p.Asn184fs) Microsatellite Likely pathogenic 804387 rs778989224 GRCh37: 2:113514393-113514396
GRCh38: 2:112756816-112756819
9 CKAP2L NM_152515.5(CKAP2L):c.1385A>T (p.Glu462Val) SNV Uncertain significance 1030263 GRCh37: 2:113513563-113513563
GRCh38: 2:112755986-112755986
10 CKAP2L NM_152515.5(CKAP2L):c.162T>G (p.Ile54Met) SNV Uncertain significance 775178 rs201346406 GRCh37: 2:113514786-113514786
GRCh38: 2:112757209-112757209
11 CKAP2L NM_152515.5(CKAP2L):c.199C>A (p.Pro67Thr) SNV Uncertain significance 1034319 GRCh37: 2:113514749-113514749
GRCh38: 2:112757172-112757172

Expression for Scott Bryant Graham Syndrome

Search GEO for disease gene expression data for Scott Bryant Graham Syndrome.

Pathways for Scott Bryant Graham Syndrome

GO Terms for Scott Bryant Graham Syndrome

Sources for Scott Bryant Graham Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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