CSCF
MCID: CRD221
MIFTS: 39

Cardiospondylocarpofacial Syndrome (CSCF)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cardiospondylocarpofacial Syndrome

MalaCards integrated aliases for Cardiospondylocarpofacial Syndrome:

Name: Cardiospondylocarpofacial Syndrome 58 54 60 76 38 6
Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones 58 54 76 74
Forney Robinson Pascoe Syndrome 54 76 74
Cscf 58 76
Congenital Heart Disease, Deafness, and Skeletal Malformations 54
Mitral Regurgitation-Deafness-Skeletal Anomalies Syndrome 60
Syndrome, Cardiospondylocarpofacial 41
Forney-Robinson-Pascoe Syndrome 60
Hearing Loss, Bilateral 45
Forney Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
cardiospondylocarpofacial syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cardiospondylocarpofacial syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cardiospondylocarpofacial Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3238Disease definitionCardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.Visit the Orphanet disease page for more resources.

MalaCards based summary : Cardiospondylocarpofacial Syndrome, also known as mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones, is related to sensorineural hearing loss and deafness, autosomal recessive 88. An important gene associated with Cardiospondylocarpofacial Syndrome is MAP3K7 (Mitogen-Activated Protein Kinase Kinase Kinase 7), and among its related pathways/superpathways are Cytokine Signaling in Immune system and MAPK signaling pathway. Affiliated tissues include bone, heart and kidney, and related phenotypes are short palm and abnormal form of the vertebral bodies

OMIM : 58 Cardiospondylocarpofacial syndrome is characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-tarsal fusion, extensive posterior cervical vertebral synostosis, cardiac septal defects with valve dysplasia, and deafness with inner ear malformations (Le Goff et al., 2016). (157800)

UniProtKB/Swiss-Prot : 76 Cardiospondylocarpofacial syndrome: A syndrome characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-tarsal fusion and extensive posterior cervical vertebral synostosis, cardiac septal defects with valve dysplasia, and deafness with inner ear malformations. CSCF transmission pattern is consistent with autosomal dominant inheritance.

Related Diseases for Cardiospondylocarpofacial Syndrome

Diseases related to Cardiospondylocarpofacial Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 146)
# Related Disease Score Top Affiliating Genes
1 sensorineural hearing loss 10.9
2 deafness, autosomal recessive 88 10.4
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
4 sudden sensorineural hearing loss 10.3
5 deafness, autosomal dominant 1 10.3
6 earlobes, thickened, with conductive deafness from incudostapedial abnormalities 10.3
7 fibromatosis, gingival, with progressive deafness 10.3
8 deafness, autosomal recessive 1a 10.3
9 abruzzo-erickson syndrome 10.3
10 deafness, autosomal recessive 2 10.3
11 deafness, autosomal dominant 2a 10.3
12 deafness, autosomal dominant 4a 10.3
13 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.3
14 deafness, autosomal recessive 5 10.3
15 deafness, autosomal dominant 6 10.3
16 deafness, autosomal recessive 6 10.3
17 deafness, autosomal recessive 7 10.3
18 deafness, autosomal dominant 5 10.3
19 deafness, autosomal recessive 9 10.3
20 deafness, autosomal recessive 8 10.3
21 deafness, autosomal dominant 10 10.3
22 deafness, autosomal dominant 11 10.3
23 deafness, autosomal dominant 9 10.3
24 deafness, autosomal recessive 12 10.3
25 deafness, autosomal dominant 7 10.3
26 deafness, autosomal dominant 12 10.3
27 deafness, autosomal dominant 3a 10.3
28 deafness, autosomal dominant 13 10.3
29 deafness, autosomal recessive 15 10.3
30 deafness, autosomal recessive 18a 10.3
31 deafness, autosomal dominant 15 10.3
32 deafness, autosomal recessive 17 10.3
33 deafness, autosomal recessive 13 10.3
34 deafness, autosomal dominant 17 10.3
35 deafness, autosomal recessive 21 10.3
36 deafness, autosomal recessive 14 10.3
37 deafness, autosomal recessive 16 10.3
38 deafness, autosomal dominant 16 10.3
39 deafness, autosomal recessive 20 10.3
40 deafness, autosomal dominant 20 10.3
41 deafness, autosomal dominant 23 10.3
42 deafness, autosomal recessive 26 10.3
43 deafness, autosomal dominant 25 10.3
44 deafness, autosomal recessive 27 10.3
45 deafness, autosomal dominant 18 10.3
46 deafness, autosomal dominant 24 10.3
47 deafness, autosomal dominant 22 10.3
48 deafness, autosomal dominant 30 10.3
49 deafness, autosomal dominant 36 10.3
50 deafness, autosomal dominant 21 10.3

Graphical network of the top 20 diseases related to Cardiospondylocarpofacial Syndrome:



Diseases related to Cardiospondylocarpofacial Syndrome

Symptoms & Phenotypes for Cardiospondylocarpofacial Syndrome

Human phenotypes related to Cardiospondylocarpofacial Syndrome:

60 33 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short palm 60 33 hallmark (90%) Very frequent (99-80%) HP:0004279
2 abnormal form of the vertebral bodies 60 33 hallmark (90%) Very frequent (99-80%) HP:0003312
3 high, narrow palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0002705
4 mitral valve prolapse 60 33 hallmark (90%) Very frequent (99-80%) HP:0001634
5 mitral regurgitation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001653
6 conductive hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000405
7 brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001156
8 severe short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0003510
9 synostosis of carpal bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0005048
10 misalignment of teeth 60 33 frequent (33%) Frequent (79-30%) HP:0000692
11 failure of eruption of permanent teeth 60 33 frequent (33%) Frequent (79-30%) HP:0006352
12 horseshoe kidney 33 occasional (7.5%) HP:0000085
13 hypertelorism 33 HP:0000316
14 failure to thrive 33 HP:0001508
15 scoliosis 33 HP:0002650
16 delayed skeletal maturation 33 HP:0002750
17 abnormality of the dentition 33 HP:0000164
18 wide nasal bridge 33 HP:0000431
19 anteverted nares 33 HP:0000463
20 short stature 33 HP:0004322
21 gastroesophageal reflux 33 HP:0002020
22 abnormality of the eye 33 HP:0000478
23 full cheeks 33 HP:0000293
24 long philtrum 33 HP:0000343
25 feeding difficulties 33 HP:0011968
26 strabismus 33 HP:0000486
27 cone-shaped epiphysis 33 HP:0010579
28 short foot 33 HP:0001773
29 recurrent otitis media 33 HP:0000403
30 joint laxity 33 HP:0001388
31 telecanthus 33 HP:0000506
32 decreased testicular size 33 HP:0008734
33 upslanted palpebral fissure 33 HP:0000582
34 vesicoureteral reflux 33 HP:0000076
35 congenital sensorineural hearing impairment 33 HP:0008527
36 rib fusion 33 HP:0000902
37 tarsal synostosis 33 HP:0008368
38 freckling 33 HP:0001480
39 fused cervical vertebrae 33 HP:0002949
40 posteriorly rotated ears 33 HP:0000358
41 carpal synostosis 33 HP:0009702
42 pseudoepiphyses 33 HP:0010584
43 synostosis of carpals/tarsals 33 HP:0100266

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
strabismus
upslanting palpebral fissures
dystopia canthorum
peri/supraorbital fullness

Skeletal Spine:
scoliosis
fused ribs
posterior cervical vertebral fusion
dorsal spine synostosis

Abdomen Gastrointestinal:
gastroesophageal reflux
feeding difficulties since birth
oropharyngeal difficulties

Head And Neck Ears:
long philtrum
recurrent otitis media
posteriorly rotated ears
conductive deafness, bilateral
inner ear malformation

Skeletal Hands:
brachydactyly
cone-shaped epiphyses
carpal fusion
pseudoepiphyses
poorly modeled phalanges

Skin Nails Hair Skin:
lentigines

Head And Neck Teeth:
dental anomalies

Genitourinary Internal Genitalia Male:
small testes
right-sided ectopic testis

Cardiovascular Heart:
septal defect
valve dysplasia

Growth Other:
failure to thrive

Head And Neck Nose:
wide nasal bridge
anteverted nares

Head And Neck Face:
full cheeks
hypotonic face

Skeletal:
joint laxity
delayed bone age

Genitourinary Bladder:
vesicoureteral reflux

Skeletal Feet:
tarsal fusion
pseudoepiphyses
small feet

Genitourinary Kidneys:
horseshoe kidney (rare)

Growth Height:
small stature

Skeletal Limbs:
short extremities

Clinical features from OMIM:

157800

GenomeRNAi Phenotypes related to Cardiospondylocarpofacial Syndrome according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.1 MAP3K7
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.1 FLNB MAP3K7
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.1 FLNB
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-212 9.1 MAP3K7
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.1 MAP3K7

Drugs & Therapeutics for Cardiospondylocarpofacial Syndrome

Search Clinical Trials , NIH Clinical Center for Cardiospondylocarpofacial Syndrome

Cochrane evidence based reviews: hearing loss, bilateral

Genetic Tests for Cardiospondylocarpofacial Syndrome

Anatomical Context for Cardiospondylocarpofacial Syndrome

MalaCards organs/tissues related to Cardiospondylocarpofacial Syndrome:

42
Bone, Heart, Kidney, Testes, Eye, Testis

Publications for Cardiospondylocarpofacial Syndrome

Articles related to Cardiospondylocarpofacial Syndrome:

# Title Authors Year
1
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder. ( 29467388 )
2018
2
Heterozygous mutations in MAP3K7, encoding TGF-beta-activated kinase 1, cause cardiospondylocarpofacial syndrome. ( 27426734 )
2016
3
Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)--a distinct syndrome? ( 20186786 )
2010

Variations for Cardiospondylocarpofacial Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Cardiospondylocarpofacial Syndrome:

76
# Symbol AA change Variation ID SNP ID
1 MAP3K7 p.Gly110Cys VAR_077344 rs886039235
2 MAP3K7 p.Trp241Arg VAR_077346 rs886039237

ClinVar genetic disease variations for Cardiospondylocarpofacial Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MAP3K7 NM_145331.2(MAP3K7): c.130_135delAGAGGA (p.Arg44_Gly45del) deletion Pathogenic rs886039234 GRCh37 Chromosome 6, 91281512: 91281517
2 MAP3K7 NM_145331.2(MAP3K7): c.130_135delAGAGGA (p.Arg44_Gly45del) deletion Pathogenic rs886039234 GRCh38 Chromosome 6, 90571793: 90571798
3 MAP3K7 NM_145331.2(MAP3K7): c.328G> T (p.Gly110Cys) single nucleotide variant Pathogenic rs886039235 GRCh37 Chromosome 6, 91271356: 91271356
4 MAP3K7 NM_145331.2(MAP3K7): c.328G> T (p.Gly110Cys) single nucleotide variant Pathogenic rs886039235 GRCh38 Chromosome 6, 90561637: 90561637
5 MAP3K7 NM_145331.2(MAP3K7): c.148_150delGTT (p.Val50del) deletion Pathogenic rs886039236 GRCh37 Chromosome 6, 91281497: 91281499
6 MAP3K7 NM_145331.2(MAP3K7): c.148_150delGTT (p.Val50del) deletion Pathogenic rs886039236 GRCh38 Chromosome 6, 90571778: 90571780
7 MAP3K7 NM_145331.2(MAP3K7): c.721T> A (p.Trp241Arg) single nucleotide variant Pathogenic rs886039237 GRCh37 Chromosome 6, 91263192: 91263192
8 MAP3K7 NM_145331.2(MAP3K7): c.721T> A (p.Trp241Arg) single nucleotide variant Pathogenic rs886039237 GRCh38 Chromosome 6, 90553473: 90553473

Expression for Cardiospondylocarpofacial Syndrome

Search GEO for disease gene expression data for Cardiospondylocarpofacial Syndrome.

Pathways for Cardiospondylocarpofacial Syndrome

Pathways related to Cardiospondylocarpofacial Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.07 FLNB MAP3K7
2 11.29 FLNB MAP3K7

GO Terms for Cardiospondylocarpofacial Syndrome

Molecular functions related to Cardiospondylocarpofacial Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 8.62 FLNB MAP3K7

Sources for Cardiospondylocarpofacial Syndrome

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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