SHFM3
MCID: SPL024
MIFTS: 39

Split-Hand/foot Malformation 3 (SHFM3)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Split-Hand/foot Malformation 3

MalaCards integrated aliases for Split-Hand/foot Malformation 3:

Name: Split-Hand/foot Malformation 3 57 75 73
Shfm3 57 12 75 55
Chromosome 10q24 Duplication Syndrome 57 12 75
Split-Hand/foot Malformation 3, Gene Duplication Syndrome 57 13
Limb Deficiencies, Distal, with Micrognathia 57 75
Limb Deficiencies Distal with Micrognathia 53 29
Split Hand-Foot Malformation 3 12 15
Shsf3 57 75
Split-Hand/foot Malformation, Type 3, Gene Duplication Syndrome 40
Distal Limb Deficiencies-Micrognathia Syndrome 59
Distal Limb Deficiencies with Micrognathia 12
10q24 Microduplication Syndrome 59
Buttiens Fryns Syndrome 53
Buttiens-Fryns Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
distal limb deficiencies-micrognathia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
preaxial involvement in approximately 60% of patients
contiguous gene duplication syndrome
linked to 10q24 trisomy


HPO:

32
split-hand/foot malformation 3:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Split-Hand/foot Malformation 3

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1307Disease definitionThe distal limb deficiencies-micrognathiasyndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.EpidemiologyIt has been reported in four patients; two of them were siblings and had moderate intellectual deficiency.Clinical descriptionTwo non-related subjects also had severe myopia, bilateral conductive hearing loss and a renal change, referred to as oligomeganephronia, or renal hypoplasia.EtiologyUsing high resolution oligoarray-based comparative genomic hybridization (aCGH), a 10q24 duplication or triplication was recently detected in all these patients, similar to the duplication detected in an isolated form of split hand foot malformation (SHFM; see this term).Visit the Orphanet disease page for more resources.

MalaCards based summary : Split-Hand/foot Malformation 3, also known as shfm3, is related to split hand-foot malformation and perrault syndrome 1. An important gene associated with Split-Hand/foot Malformation 3 is SHFM3 (Split-Hand/Foot Malformation 3), and among its related pathways/superpathways are TCR signaling (REACTOME) and Signaling by Wnt. Affiliated tissues include bone, and related phenotypes are macrocephaly and high palate

Disease Ontology : 12 A split-hand/foot malformation that has material basis in a contiguous gene duplication syndrome on chromosome 10q24.

OMIM : 57 Split-hand/split-foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM3 have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting (Elliott and Evans, 2006). For additional phenotypic information and a discussion of genetic heterogeneity in this disorder, see SHFM1 (183600). (246560)

UniProtKB/Swiss-Prot : 75 Split-hand/foot malformation 3: A limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting.

Related Diseases for Split-Hand/foot Malformation 3

Graphical network of the top 20 diseases related to Split-Hand/foot Malformation 3:



Diseases related to Split-Hand/foot Malformation 3

Symptoms & Phenotypes for Split-Hand/foot Malformation 3

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
cleft palate
high-arched palate

Skeletal Hands:
split hand
ectrodactyly
camptodactyly

Head And Neck Ears:
dysplastic ears
hearing loss, conductive or mixed

Skin Nails Hair Nails:
dystrophic nails
ridged nails

Genitourinary Kidneys:
renal hypoplasia

Skeletal Feet:
ectrodactyly
split feet

Neurologic Central Nervous System:
mental retardation (in some patients)

Head And Neck Face:
micrognathia (in some patients)
maxillary hypoplasia (in some patients)


Clinical features from OMIM:

246560

Human phenotypes related to Split-Hand/foot Malformation 3:

59 32 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
2 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
3 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
4 abnormality of the ulna 59 32 occasional (7.5%) Occasional (29-5%) HP:0002997
5 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
6 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
7 renal insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0000083
8 proteinuria 59 32 frequent (33%) Frequent (79-30%) HP:0000093
9 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
10 microdontia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000691
11 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
12 myopia 59 32 frequent (33%) Frequent (79-30%) HP:0000545
13 prominent nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000426
14 intellectual disability, moderate 59 32 frequent (33%) Frequent (79-30%) HP:0002342
15 abnormality of the metacarpal bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0001163
16 hypoplasia of the maxilla 59 32 occasional (7.5%) Very frequent (99-80%) HP:0000327
17 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
18 narrow mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000160
19 conductive hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000405
20 renal hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000089
21 abnormality of the ankles 59 32 hallmark (90%) Very frequent (99-80%) HP:0003028
22 microretrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000308
23 tarsal synostosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008368
24 aplasia/hypoplasia of the thumb 59 32 frequent (33%) Frequent (79-30%) HP:0009601
25 oligodactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0012165
26 aplasia/hypoplasia of the radius 59 32 frequent (33%) Frequent (79-30%) HP:0006501
27 abnormality of the wrist 59 32 frequent (33%) Frequent (79-30%) HP:0003019
28 abnormality of chromosome segregation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002916
29 split foot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001839
30 microglossia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000171
31 intellectual disability 32 HP:0001249
32 nail dystrophy 32 HP:0008404
33 abnormality of the pinna 32 HP:0000377
34 split hand 32 HP:0001171
35 ridged nail 32 HP:0001807
36 camptodactyly 32 HP:0012385

GenomeRNAi Phenotypes related to Split-Hand/foot Malformation 3 according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.44 WNT10B
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.44 SEM1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.44 WNT10B
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.44 SEM1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.44 WNT10B
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-155 9.44 WNT10B
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.44 SEM1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.44 SEM1 WNT10B
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.44 WNT10B
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.44 WNT10B
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.44 WNT10B
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-62 9.44 SEM1

Drugs & Therapeutics for Split-Hand/foot Malformation 3

Search Clinical Trials , NIH Clinical Center for Split-Hand/foot Malformation 3

Genetic Tests for Split-Hand/foot Malformation 3

Genetic tests related to Split-Hand/foot Malformation 3:

# Genetic test Affiliating Genes
1 Limb Deficiencies Distal with Micrognathia 29

Anatomical Context for Split-Hand/foot Malformation 3

MalaCards organs/tissues related to Split-Hand/foot Malformation 3:

41
Bone

Publications for Split-Hand/foot Malformation 3

Articles related to Split-Hand/foot Malformation 3:

# Title Authors Year
1
Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements. ( 19584065 )
2010

Variations for Split-Hand/foot Malformation 3

Expression for Split-Hand/foot Malformation 3

Search GEO for disease gene expression data for Split-Hand/foot Malformation 3.

Pathways for Split-Hand/foot Malformation 3

Pathways related to Split-Hand/foot Malformation 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.67 BTRC SEM1
2
Show member pathways
11.56 BTRC SEM1 WNT10B
3 11.44 BTRC WNT10B
4
Show member pathways
11.33 BTRC WNT10B
5 11.11 BTRC WNT10B

GO Terms for Split-Hand/foot Malformation 3

Cellular components related to Split-Hand/foot Malformation 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 SCF ubiquitin ligase complex GO:0019005 8.62 BTRC FBXW4

Biological processes related to Split-Hand/foot Malformation 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein polyubiquitination GO:0000209 9.37 BTRC FBXW4
2 G2/M transition of mitotic cell cycle GO:0000086 9.32 BTRC WNT10B
3 cellular response to organic cyclic compound GO:0071407 9.26 BTRC WNT10B
4 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process GO:0031146 9.16 BTRC FBXW4
5 post-translational protein modification GO:0043687 9.13 BTRC FBXW4 SEM1
6 Wnt signaling pathway GO:0016055 8.8 BTRC FBXW4 WNT10B

Sources for Split-Hand/foot Malformation 3

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
Content
Loading form....