MCID: CRD221
MIFTS: 39

Cardiospondylocarpofacial Syndrome

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

Aliases & Classifications for Cardiospondylocarpofacial Syndrome

MalaCards integrated aliases for Cardiospondylocarpofacial Syndrome:

Name: Cardiospondylocarpofacial Syndrome 57 53 59 75
Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones 57 53 75 73
Forney Robinson Pascoe Syndrome 53 75 6 73
Cscf 57 75
Congenital Heart Disease, Deafness, and Skeletal Malformations 53
Mitral Regurgitation-Deafness-Skeletal Anomalies Syndrome 59
Syndrome, Cardiospondylocarpofacial 40
Forney-Robinson-Pascoe Syndrome 59
Hearing Loss, Bilateral 44
Forney Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
cardiospondylocarpofacial syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cardiospondylocarpofacial syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cardiospondylocarpofacial Syndrome

NIH Rare Diseases : 53 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 deafness, autosomal recessive 88 and deafness, autosomal dominant 1. 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 : 57 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 : 75 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 148)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 88 10.2
2 deafness, autosomal dominant 1 10.1
3 earlobes, thickened, with conductive deafness from incudostapedial abnormalities 10.1
4 fibromatosis, gingival, with progressive deafness 10.1
5 deafness, autosomal recessive 1a 10.1
6 abruzzo-erickson syndrome 10.1
7 deafness, autosomal recessive 2 10.1
8 deafness, autosomal dominant 2a 10.1
9 deafness, autosomal dominant 4a 10.1
10 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.1
11 deafness, autosomal recessive 5 10.1
12 deafness, autosomal dominant 6 10.1
13 deafness, autosomal recessive 6 10.1
14 deafness, autosomal recessive 7 10.1
15 deafness, autosomal dominant 5 10.1
16 deafness, autosomal recessive 9 10.1
17 deafness, autosomal recessive 8 10.1
18 deafness, autosomal dominant 10 10.1
19 deafness, autosomal dominant 11 10.1
20 deafness, autosomal dominant 9 10.1
21 deafness, autosomal recessive 12 10.1
22 deafness, autosomal dominant 7 10.1
23 deafness, autosomal dominant 12 10.1
24 deafness, autosomal dominant 3a 10.1
25 deafness, autosomal dominant 13 10.1
26 deafness, autosomal recessive 15 10.1
27 deafness, autosomal recessive 18a 10.1
28 deafness, autosomal dominant 15 10.1
29 deafness, autosomal recessive 17 10.1
30 deafness, autosomal recessive 13 10.1
31 deafness, autosomal dominant 17 10.1
32 deafness, autosomal recessive 21 10.1
33 deafness, autosomal recessive 14 10.1
34 deafness, autosomal recessive 16 10.1
35 deafness, autosomal dominant 16 10.1
36 deafness, autosomal recessive 20 10.1
37 deafness, autosomal dominant 20 10.1
38 deafness, autosomal dominant 23 10.1
39 deafness, autosomal recessive 26 10.1
40 deafness, autosomal dominant 25 10.1
41 deafness, autosomal recessive 27 10.1
42 deafness, autosomal dominant 18 10.1
43 deafness, autosomal dominant 24 10.1
44 deafness, autosomal dominant 22 10.1
45 deafness, autosomal dominant 30 10.1
46 deafness, autosomal dominant 36 10.1
47 deafness, autosomal dominant 21 10.1
48 deafness, autosomal recessive 22 10.1
49 deafness, autosomal recessive 31 10.1
50 deafness, autosomal recessive 30 10.1

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



Diseases related to Cardiospondylocarpofacial Syndrome

Symptoms & Phenotypes for Cardiospondylocarpofacial Syndrome

Symptoms via clinical synopsis from OMIM:

57
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:
joint laxity
delayed bone age

Skin Nails Hair Skin:
lentigines

Head And Neck Teeth:
dental anomalies

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

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

Human phenotypes related to Cardiospondylocarpofacial Syndrome:

59 32 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short palm 59 32 hallmark (90%) Very frequent (99-80%) HP:0004279
2 abnormal form of the vertebral bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0003312
3 high, narrow palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0002705
4 mitral regurgitation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001653
5 mitral valve prolapse 59 32 hallmark (90%) Very frequent (99-80%) HP:0001634
6 conductive hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000405
7 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
8 severe short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003510
9 synostosis of carpal bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0005048
10 misalignment of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000692
11 failure of eruption of permanent teeth 59 32 frequent (33%) Frequent (79-30%) HP:0006352
12 hypertelorism 32 HP:0000316
13 failure to thrive 32 HP:0001508
14 scoliosis 32 HP:0002650
15 delayed skeletal maturation 32 HP:0002750
16 abnormality of the dentition 32 HP:0000164
17 wide nasal bridge 32 HP:0000431
18 anteverted nares 32 HP:0000463
19 short stature 32 HP:0004322
20 gastroesophageal reflux 32 HP:0002020
21 abnormality of the eye 32 HP:0000478
22 full cheeks 32 HP:0000293
23 long philtrum 32 HP:0000343
24 strabismus 32 HP:0000486
25 cone-shaped epiphysis 32 HP:0010579
26 short foot 32 HP:0001773
27 recurrent otitis media 32 HP:0000403
28 horseshoe kidney 32 occasional (7.5%) HP:0000085
29 telecanthus 32 HP:0000506
30 decreased testicular size 32 HP:0008734
31 upslanted palpebral fissure 32 HP:0000582
32 joint laxity 32 HP:0001388
33 vesicoureteral reflux 32 HP:0000076
34 congenital sensorineural hearing impairment 32 HP:0008527
35 rib fusion 32 HP:0000902
36 tarsal synostosis 32 HP:0008368
37 freckling 32 HP:0001480
38 fused cervical vertebrae 32 HP:0002949
39 posteriorly rotated ears 32 HP:0000358
40 carpal synostosis 32 HP:0009702
41 pseudoepiphyses 32 HP:0010584
42 synostosis of carpals/tarsals 32 HP:0100266

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.17 MAP3K7
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.17 FLNB MAP3K7
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.17 FLNB
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-212 9.17 MAP3K7
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 9.17 MAP3K7
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.17 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:

41
Bone, Heart, Kidney, Testes, Eye, Testis

Publications for Cardiospondylocarpofacial Syndrome

Articles related to Cardiospondylocarpofacial Syndrome:

# Title Authors Year
1
Heterozygous mutations in MAP3K7, encoding TGF-beta-activated kinase 1, cause cardiospondylocarpofacial syndrome. ( 27426734 )
2016
2
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:

75
# 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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