MCID: ISC016
MIFTS: 28

Ischiocoxopodopatellar Syndrome

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Ischiocoxopodopatellar Syndrome

MalaCards integrated aliases for Ischiocoxopodopatellar Syndrome:

Name: Ischiocoxopodopatellar Syndrome 54 71
Small Patella Syndrome 50 24 71 13 69
Ischiopatellar Dysplasia 50 71 29
Scott-Taor Syndrome 50 71
Congenital Coxa Vara, Patella Aplasia and Tarsal Synostosis 50
Patella Aplasia, Coxa Vara, and Tarsal Synostosis 71
Patella Aplasia, Coxa Vara, Tarsal Synostosis 50
Coxo-Podo-Patellar Syndrome 50
Coxopodopatellar Syndrome 71
Icpps 71
Sps 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
ischiocoxopodopatellar syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ischiocoxopodopatellar Syndrome

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 1509disease definitionsmall patella syndrome (sps) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.epidemiologyless that 50 patients have been reported worldwide.clinical descriptionthe main clinical features include patellar aplasia or hypoplasia, associated with absent, delayed or irregular ossification of the ischiopubic junctions and/or the infra-acetabular axe-cut notches. additional features found in the majority of reported patients include femur and foot anomalies (a wide gap between the first and second toes, short fourth and fifth rays of the feet, and pes planus). craniofacial anomalies (micrognathia, cleft palate, flattened nose and prominent forehead) have been reported occasionally. intrafamilial variability of the patellar, pelvic and foot anomalies has been described. signs and symptoms vary from pain resulting from gonarthrosis in elderly subjects to recurrent luxations from infancy, knee pain, and inability to run and ride a bicycle. however, some cases are asymptomatic.etiologysps is caused by mutations in the human tbx4 gene (chromosome 17q22). tbx4 mutations account for familial cases with a distinctive facial appearance and those without facial features. at present, there is no evidence for a genotype-phenotype correlation.diagnostic methodsdiagnosis is clinical and radiographical.differential diagnosissps should be recognized and differentiated from disorders with aplastic or hypoplastic patellae, such as isolated familial patella aplasia-hypoplasia (ptlah) syndrome and the more severe nail-patella syndrome (nps).genetic counselingsps is inherited in an autosomal dominant manner.management and treatmentearly surgical treatment, pain relief therapy and supportive measures should be offered.visit the orphanet disease page for more resources. last updated: 11/30/2006

MalaCards based summary : Ischiocoxopodopatellar Syndrome, also known as small patella syndrome, is related to stiff-person syndrome and surfactant metabolism dysfunction, pulmonary, 2, and has symptoms including micrognathia, cleft palate and pes planus. An important gene associated with Ischiocoxopodopatellar Syndrome is TBX4 (T-Box 4). Affiliated tissues include bone.

UniProtKB/Swiss-Prot : 71 Ischiocoxopodopatellar syndrome: An autosomal dominant bone disease characterized by patellar aplasia or hypoplasia and by anomalies of the pelvis and feet, including disrupted ossification of the ischia and inferior pubic rami.

Description from OMIM: 147891

Related Diseases for Ischiocoxopodopatellar Syndrome

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

(show top 50) (show all 269)
id Related Disease Score Top Affiliating Genes
1 stiff-person syndrome 12.0
2 surfactant metabolism dysfunction, pulmonary, 2 10.8
3 surfactant metabolism dysfunction, pulmonary, 1 10.8
4 aneruptive fever 10.7
5 ventilation pneumonitis 10.7
6 farmer's lung 10.7
7 tularemia 10.7
8 absence of septum pellucidum 10.7
9 myxozoa 10.4
10 pneumonia 9.9
11 spotted fever 9.9
12 nail-patella syndrome 9.8
13 endotheliitis 9.8
14 hepatitis 9.8
15 phaeohyphomycosis 9.8
16 coccidiosis 9.8
17 hereditary elliptocytosis 9.8
18 relapsing fever 9.7
19 mycobacterium chelonae 9.7
20 lung disease 9.7
21 cystic fibrosis 9.7
22 mycetoma 9.7
23 mycobacterium fortuitum 9.7
24 pancreatitis 9.7
25 aspergillosis 9.7
26 bacterial vaginosis 9.7
27 campomelic dysplasia 9.7
28 patella aplasia-hypoplasia 9.7
29 dermatitis 9.7
30 pulmonary fibrosis 9.7
31 nocardiosis 9.7
32 influenza 9.7
33 diarrhea 9.7
34 myiasis 9.7
35 breast cancer 9.7
36 conjunctivitis 9.7
37 acute diarrhea 9.6
38 pancreatic cancer 9.6
39 social phobia 9.6
40 tuberculosis 9.6
41 leishmaniasis 9.6
42 adenocarcinoma 9.6
43 neuronitis 9.6
44 mycobacterium abscessus 9.6
45 sinusitis 9.6
46 keratitis 9.6
47 encephalitis 9.6
48 obesity 9.5
49 granulomatous amebic encephalitis 9.5
50 ophthalmomyiasis 9.5

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



Diseases related to Ischiocoxopodopatellar Syndrome

Symptoms & Phenotypes for Ischiocoxopodopatellar Syndrome

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Head And Neck- Face:
micrognathia

Skeletal- Pelvis:
coxa vara
lesser trochanter hypoplasia
flat, wide proximal femoral epiphyses
absent/delayed/irregular ischiopubic junction ossification
infra-acetabula axe-cut notches
more
Skeletal- Limbs:
patellar dislocation
aplastic patellae
hypoplastic patellae

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

Skin Nails & Hair- Nails:
normal nails

Skeletal- Feet:
pes planus
tarsal synostosis
wide space between 1st, 2nd toes
brachymetatarsia
short fourth and fifth rays
more

Clinical features from OMIM:

147891

Human phenotypes related to Ischiocoxopodopatellar Syndrome:

32 (show all 14)
id Description HPO Frequency HPO Source Accession
1 micrognathia 32 HP:0000347
2 cleft palate 32 HP:0000175
3 pes planus 32 HP:0001763
4 high palate 32 HP:0000218
5 patellar aplasia 32 HP:0006443
6 sandal gap 32 HP:0001852
7 hip dysplasia 32 frequent (33%) HP:0001385
8 patellar dislocation 32 HP:0002999
9 patellar hypoplasia 32 HP:0003065
10 abnormality of epiphysis morphology 32 hallmark (90%) HP:0005930
11 aplasia/hypoplasia of the patella 32 hallmark (90%) HP:0006498
12 flat capital femoral epiphysis 32 HP:0003370
13 wide capital femoral epiphyses 32 HP:0008784
14 hypoplasia of the lesser trochanter 32 HP:0008801

Drugs & Therapeutics for Ischiocoxopodopatellar Syndrome

Search Clinical Trials , NIH Clinical Center for Ischiocoxopodopatellar Syndrome

Genetic Tests for Ischiocoxopodopatellar Syndrome

Genetic tests related to Ischiocoxopodopatellar Syndrome:

id Genetic test Affiliating Genes
1 Ischiopatellar Dysplasia 29
2 Small Patella Syndrome 24 TBX4

Anatomical Context for Ischiocoxopodopatellar Syndrome

MalaCards organs/tissues related to Ischiocoxopodopatellar Syndrome:

39
Bone

Publications for Ischiocoxopodopatellar Syndrome

Variations for Ischiocoxopodopatellar Syndrome

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

71
id Symbol AA change Variation ID SNP ID
1 TBX4 p.Gly248Val VAR_026745 rs28938474
2 TBX4 p.Gln531Arg VAR_026746 rs28936696

ClinVar genetic disease variations for Ischiocoxopodopatellar Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TBX4 NM_018488.3(TBX4): c.743G> T (p.Gly248Val) single nucleotide variant Pathogenic rs28938474 GRCh37 Chromosome 17, 59557282: 59557282
2 TBX4 NM_018488.3(TBX4): c.184C> T (p.Gln62Ter) single nucleotide variant Pathogenic rs104894648 GRCh37 Chromosome 17, 59534035: 59534035
3 TBX4 NM_018488.3(TBX4): c.1592A> G (p.Gln531Arg) single nucleotide variant Pathogenic rs28936696 GRCh37 Chromosome 17, 59560831: 59560831

Expression for Ischiocoxopodopatellar Syndrome

Search GEO for disease gene expression data for Ischiocoxopodopatellar Syndrome.

Pathways for Ischiocoxopodopatellar Syndrome

GO Terms for Ischiocoxopodopatellar Syndrome

Sources for Ischiocoxopodopatellar Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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