ICPPS
MCID: ISC020
MIFTS: 51

Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension (ICPPS)

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

Aliases & Classifications for Ischiocoxopodopatellar Syndrome with or Without Pulmonary...

MalaCards integrated aliases for Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension:

Name: Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension 57 12 73
Ischiopatellar Dysplasia 57 12 74 20 58 73 44
Small Patella Syndrome 57 12 20 58 73 13
Coxopodopatellar Syndrome 57 58 73 29 6
Scott-Taor Syndrome 57 12 20 58 73
Ischiocoxopodopatellar Syndrome 12 20 36 15
Sps 57 12 58 73
Patella Aplasia, Coxa Vara, and Tarsal Synostosis 57 12 73
Congenital Coxa Vara, Patella Aplasia and Tarsal Synostosis 12 20
Patella Aplasia, Coxa Vara, Tarsal Synostosis 20 44
Coxo-Podo-Patellar Syndrome 12 20
Icpps 57 73
Syndrome, Ischiocoxopodopatellar 39
Small Patella Syndrome; Sps 57
Coxopodipatellar Syndrome 12
Small Patella 6

Characteristics:

Orphanet epidemiological data:

58
coxopodopatellar syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111382
OMIM® 57 147891
KEGG 36 H00461
SNOMED-CT 67 720752007
ICD10 via Orphanet 33 Q74.1
UMLS via Orphanet 72 C1840061 C1868581
Orphanet 58 ORPHA1509
MedGen 41 C1840061
UMLS 71 C1840061 C1868581

Summaries for Ischiocoxopodopatellar Syndrome with or Without Pulmonary...

GARD : 20 Small patella syndrome (SPS) is a rare syndrome that mainly affects the way certain bones are formed (developed). A person with SPS usually has very small kneecaps (hypoplastic patella) or may have no kneecaps at all (aplastic). The hip (pelvic) bones may be weak, and the bones of the feet may not have formed correctly. Occasionally, bones in the face may also be affected. Small patella syndrome is caused by a change (pathogenic variant or mutation) in the TBX4 gene. The syndrome is inherited in an autosomal dominant manner. Diagnosis of the syndrome is suspected based on features that can be seen in a physical exam and on imaging tests such as X-rays. Diagnosis of SPS can be confirmed with genetic testing. Treatment of SPS may include pain management with medications, physical and occupational therapies, and surgical treatments.

MalaCards based summary : Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension, also known as ischiopatellar dysplasia, is related to stroke, ischemic and respiratory failure. An important gene associated with Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension is TBX4 (T-Box Transcription Factor 4), and among its related pathways/superpathways are Alzheimers Disease and Diseases of metabolism. Affiliated tissues include bone, and related phenotypes are abnormality of epiphysis morphology and aplasia/hypoplasia of the patella

Disease Ontology : 12 A dysostosis characterized by hypoplasia or aplasia of the patellas and various anomalies of the pelvis and feet that has material basis in heterozygous mutation in TBX4 on chromosome 17q23.2.

OMIM® : 57 Ischiocoxopodopatellar syndrome (ICPPS) is a rare autosomal dominant disorder characterized by a/hypoplasia of the patellas and various anomalies of the pelvis and feet. Pelvic anomalies include bilateral absent or delayed ossification of the ischiopubic junction and infraacetabular axe cut notches. Other major signs are a wide gap between the first and second toes, short fourth and fifth rays of the feet, and pes planus (summary by Bongers et al., 2001). Pediatric-onset pulmonary arterial hypertension may be seen in association with ICPPS (Kerstjens-Frederikse et al., 2013 and Levy et al., 2016). (147891) (Updated 05-Mar-2021)

KEGG : 36 Ischiocoxopodopatellar syndrome, also known as small patella syndrome, is a skeletal dysplasia with anomalies of the pelvis. Ossification of the ischia and inferior pubic rami is also disrupted in patients.

UniProtKB/Swiss-Prot : 73 Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension: 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.

Wikipedia : 74 Ischiopatellar dysplasia is a rare autosomal dominant disorder characterized by a hypoplasia of the... more...

Related Diseases for Ischiocoxopodopatellar Syndrome with or Without Pulmonary...

Diseases related to Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 155)
# Related Disease Score Top Affiliating Genes
1 stroke, ischemic 29.7 SERPINA3 PSEN1 MAPT APOE
2 respiratory failure 29.6 SFTPD SFTPC SFTPB SERPINA3 MAPT CD4
3 stiff-person syndrome 11.8
4 amelia, posterior, with pelvic and pulmonary hypoplasia syndrome 11.5
5 serrated polyposis syndrome 11.1
6 coxa vara 10.5
7 tracheal agenesis 10.4 SFTPD SFTPB
8 myringitis bullosa hemorrhagica 10.4 SFTPA2 SFTPA1
9 residual stage of open angle glaucoma 10.4 APP APOE
10 senile plaque formation 10.4 APP APOE
11 surfactant metabolism dysfunction, pulmonary, 1 10.3 SFTPC SFTPB
12 lipid pneumonia 10.3 TBX4 SFTPC SFTPB
13 exudative vitreoretinopathy 7 10.3 TBX5 TBX4
14 respiratory distress syndrome in premature infants 10.3 SFTPC SFTPB SFTPA1
15 surfactant dysfunction 10.3 SFTPC SFTPB SFTPA1
16 subjective cognitive decline 10.3 MAPT APOE
17 chromosome 17q21.31 duplication syndrome 10.3 MAPT APP
18 cerebral amyloid angiopathy, itm2b-related, 1 10.3 SERPINA3 PSEN1 APP
19 posterior cortical atrophy 10.3 MAPT APOE
20 fatal familial insomnia 10.3 SERPINA3 MAPT APP
21 allergic bronchopulmonary aspergillosis 10.3 SFTPD SFTPA2 SFTPA1
22 aspergillosis 10.3 SFTPD SFTPA2 SFTPA1
23 ventilation pneumonitis 10.3 SFTPD CD4
24 alzheimer disease 10 10.3 MAPT APOE
25 alzheimer's disease 1 10.3 APP APOE
26 rheumatoid arthritis interstitial lung disease 10.3 SFTPD CD4
27 anosognosia 10.3 PSEN1 APOE
28 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 10.3 SERPINA3 APP APOE
29 bird fancier's lung 10.3 SFTPD CD4
30 binswanger's disease 10.3 MAPT APP APOE
31 pulmonary emphysema 10.3 SFTPD SFTPC SERPINA3
32 subacute lymphocytic thyroiditis 10.3 FLNB CD4
33 gerstmann-straussler disease 10.3 PSEN1 MAPT APP
34 mild cognitive impairment 10.2 MAPT APP APOE
35 alzheimer disease 3 10.2 PSEN1 APP APOE
36 streptococcus pneumonia 10.2 SFTPA2 SFTPA1 CD4
37 progressive non-fluent aphasia 10.2 PSEN1 MAPT
38 gerstmann syndrome 10.2 PSEN1 MAPT APOE
39 simultanagnosia 10.2 PSEN1 MAPT APOE
40 interstitial pneumonitis, desquamative, familial 10.2 SFTPD SFTPC SFTPB SFTPA2
41 visual agnosia 10.2 PSEN1 MAPT APOE
42 nominal aphasia 10.2 PSEN1 MAPT APOE
43 ideomotor apraxia 10.2 MAPT APOE
44 anxiety 10.2
45 social phobia 10.2
46 semantic dementia 10.2 PSEN1 MAPT APOE
47 alexia 10.2 MAPT APOE
48 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 10.2 PSEN1 APP APOE
49 meningoencephalitis 10.2 SERPINA3 CD4 APP
50 pulmonary fibrosis 10.2 SFTPD SFTPC SFTPA2 SFTPA1

Graphical network of the top 20 diseases related to Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension:



Diseases related to Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension

Symptoms & Phenotypes for Ischiocoxopodopatellar Syndrome with or Without Pulmonary...

Human phenotypes related to Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
2 aplasia/hypoplasia of the patella 58 31 hallmark (90%) Very frequent (99-80%) HP:0006498
3 hip dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001385
4 high palate 31 HP:0000218
5 pes planus 31 HP:0001763
6 short stature 31 HP:0004322
7 cleft palate 31 HP:0000175
8 micrognathia 31 HP:0000347
9 sandal gap 31 HP:0001852
10 patellar dislocation 31 HP:0002999
11 abnormality of pelvic girdle bone morphology 58 Frequent (79-30%)
12 coxa vara 31 HP:0002812
13 patellar aplasia 31 HP:0006443
14 abnormality of the knee 58 Very frequent (99-80%)
15 patellar hypoplasia 31 HP:0003065
16 short femur 31 HP:0003097
17 flat capital femoral epiphysis 31 HP:0003370
18 talocalcaneal synostosis 31 HP:0005682
19 wide capital femoral epiphyses 31 HP:0008784
20 hypoplasia of the lesser trochanter 31 HP:0008801

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Feet:
pes planus
sandal gap
tarsal synostosis
talocalcaneal synostosis
brachymetatarsia
more
Head And Neck Mouth:
cleft palate
high-arched palate

Skeletal Limbs:
patellar dislocation
aplastic patellae
hypoplastic patellae

Skin Nails Hair Nails:
normal nails

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-acetabular axe-cut notches
more
Cardiovascular Vascular:
pulmonary hypertension (in some patients)

Clinical features from OMIM®:

147891 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.44 ABCG2
2 Decreased viability GR00249-S 9.44 FLNB MAPT PSEN1 SERPINA3 SFTPA1 TBX4
3 Decreased viability GR00342-S-2 9.44 CD4
4 Decreased viability GR00342-S-3 9.44 SEPHS2
5 Decreased viability GR00381-A-1 9.44 PSTK
6 Decreased viability GR00386-A-1 9.44 APOE FLNB
7 Decreased viability GR00402-S-2 9.44 MAPT

MGI Mouse Phenotypes related to Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.31 ABCG2 APOE APP CD4 DIPK2B FLNB
2 immune system MP:0005387 10.15 ABCG2 APOE APP CD4 DIPK2B FLNB
3 cardiovascular system MP:0005385 10.13 APOE APP FLNB MAPT PSEN1 SEPHS2
4 mortality/aging MP:0010768 10.13 APOE APP CD4 FLNB MAPT PSEN1
5 limbs/digits/tail MP:0005371 9.87 APOE APP FLNB PSEN1 SP3 TBX4
6 no phenotypic analysis MP:0003012 9.7 APOE APP CD4 MAPT SFTPC SP3
7 normal MP:0002873 9.56 ABCG2 APP CD4 MAPT PSEN1 TBX4
8 respiratory system MP:0005388 9.23 APOE FLNB PSEN1 SFTPA1 SFTPB SFTPC

Drugs & Therapeutics for Ischiocoxopodopatellar Syndrome with or Without Pulmonary...

Search Clinical Trials , NIH Clinical Center for Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension

Cochrane evidence based reviews: ischiopatellar dysplasia

Genetic Tests for Ischiocoxopodopatellar Syndrome with or Without Pulmonary...

Genetic tests related to Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension:

# Genetic test Affiliating Genes
1 Coxopodopatellar Syndrome 29 TBX4

Anatomical Context for Ischiocoxopodopatellar Syndrome with or Without Pulmonary...

MalaCards organs/tissues related to Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension:

40
Bone

Publications for Ischiocoxopodopatellar Syndrome with or Without Pulmonary...

Articles related to Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension:

(show all 18)
# Title Authors PMID Year
1
A newly recognized multiple malformation syndrome with caudal regression associated with a biallelic c.402G>A variant in TBX4. 57 6
31965066 2020
2
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia. 6 57
31761294 2019
3
Phenotype characterisation of TBX4 mutation and deletion carriers with neonatal and paediatric pulmonary hypertension. 57 6
31151956 2019
4
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension. 57 6
23592887 2013
5
Mutations in the human TBX4 gene cause small patella syndrome. 6 57
15106123 2004
6
The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome. 6 57
11303519 2001
7
[Ischiopatellar dysplasia (Scott and Taor's syndrome of the small patella)]. 57 61
6212344 1981
8
Genetic analyses in a cohort of children with pulmonary hypertension. 57
27587546 2016
9
Human syndromes with congenital patellar anomalies and the underlying gene defects. 57
16143015 2005
10
Small patella syndrome. 57
7573128 1995
11
[The small patella syndrome. A combination of knee and pelvic dysplasia]. 57
3381566 1988
12
[The coxopodopatellar syndrome]. 57
4045792 1985
13
The "small patella" syndrome. 57
438269 1979
14
Congenital coxa vara, patella aplasia and tarsal synostosis: a new inherited syndrome. 57
5512529 1970
15
Small patella syndrome: New clinical and molecular insights into a consistent phenotype. 20
29120062 2017
16
Small patella syndrome. 20
27344077 2017
17
Medial and lateral retinaculum plasty for congenital patellar dislocation due to small patella syndrome. 20
24200447 2013
18
Small patella syndrome: a bone dysplasia to recognize and differentiate from the nail-patella syndrome. 61
9133358 1997

Variations for Ischiocoxopodopatellar Syndrome with or Without Pulmonary...

ClinVar genetic disease variations for Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension:

6 (show top 50) (show all 83)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TBX4 NM_001321120.2(TBX4):c.743G>T (p.Gly248Val) SNV Pathogenic 7855 rs28938474 17:59557282-59557282 17:61479921-61479921
2 TBX4 NM_001321120.2(TBX4):c.184C>T (p.Gln62Ter) SNV Pathogenic 7856 rs104894648 17:59534035-59534035 17:61456674-61456674
3 TBX4 NM_001321120.2(TBX4):c.1595A>G (p.Gln532Arg) SNV Pathogenic 7857 rs28936696 17:59560831-59560831 17:61483470-61483470
4 TBX4 NM_001321120.2(TBX4):c.355dup (p.Ile119fs) Duplication Pathogenic 633610 rs1569036773 17:59543252-59543253 17:61465891-61465892
5 TBX4 NM_001321120.2(TBX4):c.251del (p.Gly84fs) Deletion Pathogenic 800703 rs1603248606 17:59534960-59534960 17:61457599-61457599
6 TBX4 NM_001321120.2(TBX4):c.1057C>T (p.Arg353Ter) SNV Pathogenic 800704 rs1603256040 17:59560293-59560293 17:61482932-61482932
7 TBX4 NM_001321120.2(TBX4):c.792-1G>C SNV Pathogenic 800705 rs1603255224 17:59557450-59557450 17:61480089-61480089
8 TBX4 NM_001321120.2(TBX4):c.557T>G (p.Leu186Arg) SNV Pathogenic 279597 rs886041115 17:59555995-59555995 17:61478634-61478634
9 TBX4 NM_001321120.2(TBX4):c.339T>A (p.Tyr113Ter) SNV Pathogenic 805945 rs1603251001 17:59543237-59543237 17:61465876-61465876
10 TBX4 NM_001321120.2(TBX4):c.281+1G>T SNV Pathogenic 807511 rs1555881112 17:59534993-59534993 17:61457632-61457632
11 TBX4 NM_001321120.2(TBX4):c.402G>A (p.Trp134Ter) SNV Pathogenic 638159 rs1603251494 17:59544871-59544871 17:61467510-61467510
12 TBX4 NM_001321120.2(TBX4):c.1115dup (p.Pro373fs) Duplication Likely pathogenic 812880 rs754897911 17:59560344-59560345 17:61482983-61482984
13 FLNB NM_001457.4(FLNB):c.5375_5377del (p.Glu1792del) Deletion Likely pathogenic 599274 rs1470699812 3:58129289-58129291 3:58143562-58143564
14 TBX4 NM_001321120.2(TBX4):c.979C>T (p.Gln327Ter) SNV Likely pathogenic 982403 17:59557638-59557638 17:61480277-61480277
15 TBX4 NM_001321120.2(TBX4):c.1090del (p.Glu364fs) Deletion Uncertain significance 975902 17:59560322-59560322 17:61482961-61482961
16 TBX4 NM_001321120.2(TBX4):c.*137_*138TA[1] Microsatellite Uncertain significance 324276 rs60535903 17:59561014-59561015 17:61483653-61483654
17 TBX4 NM_001321120.2(TBX4):c.1215G>T (p.Val405=) SNV Uncertain significance 889449 17:59560451-59560451 17:61483090-61483090
18 TBX4 NM_001321120.2(TBX4):c.1277C>T (p.Pro426Leu) SNV Uncertain significance 889450 17:59560513-59560513 17:61483152-61483152
19 TBX4 NM_001321120.2(TBX4):c.1401A>G (p.Pro467=) SNV Uncertain significance 889451 17:59560637-59560637 17:61483276-61483276
20 TBX4 NM_001321120.2(TBX4):c.150C>T (p.Pro50=) SNV Uncertain significance 890083 17:59534001-59534001 17:61456640-61456640
21 TBX4 NM_001321120.2(TBX4):c.658C>A (p.Pro220Thr) SNV Uncertain significance 890662 17:59556096-59556096 17:61478735-61478735
22 TBX4 NM_001321120.2(TBX4):c.*409G>A SNV Uncertain significance 890715 17:59561286-59561286 17:61483925-61483925
23 TBX4 NM_001321120.2(TBX4):c.*428G>A SNV Uncertain significance 890716 17:59561305-59561305 17:61483944-61483944
24 TBX4 NM_001321120.2(TBX4):c.*607G>T SNV Uncertain significance 890717 17:59561484-59561484 17:61484123-61484123
25 TBX4 NM_001321120.2(TBX4):c.791+11G>T SNV Uncertain significance 891901 17:59557341-59557341 17:61479980-61479980
26 TBX4 NM_001321120.2(TBX4):c.47C>T (p.Ala16Val) SNV Uncertain significance 889395 17:59533898-59533898 17:61456537-61456537
27 TBX4 NM_001321120.2(TBX4):c.1109C>A (p.Ser370Tyr) SNV Uncertain significance 889448 17:59560345-59560345 17:61482984-61482984
28 TBX4 NM_001321120.2(TBX4):c.524A>C (p.Asn175Thr) SNV Uncertain significance 800781 rs1603251548 17:59544993-59544993 17:61467632-61467632
29 TBX4 NM_001321120.2(TBX4):c.*627T>C SNV Uncertain significance 324282 rs886053193 17:59561504-59561504 17:61484143-61484143
30 TBX4 NM_001321120.2(TBX4):c.110C>T (p.Pro37Leu) SNV Uncertain significance 324245 rs886053187 17:59533961-59533961 17:61456600-61456600
31 TBX4 NM_001321120.2(TBX4):c.759T>A (p.Asp253Glu) SNV Uncertain significance 324253 rs370445458 17:59557298-59557298 17:61479937-61479937
32 TBX4 NM_001321120.2(TBX4):c.*98_*99GT[26] Microsatellite Uncertain significance 324271 rs149977669 17:59560974-59560975 17:61483613-61483614
33 TBX4 NM_001321120.2(TBX4):c.*661G>A SNV Uncertain significance 324283 rs886053194 17:59561538-59561538 17:61484177-61484177
34 TBX4 NM_001321120.2(TBX4):c.*98_*99GT[24] Microsatellite Uncertain significance 324269 rs149977669 17:59560974-59560975 17:61483613-61483614
35 TBX4 NM_001321120.2(TBX4):c.*252G>C SNV Uncertain significance 324278 rs886053191 17:59561129-59561129 17:61483768-61483768
36 TBX4 NM_001321120.2(TBX4):c.*383G>T SNV Uncertain significance 324281 rs886053192 17:59561260-59561260 17:61483899-61483899
37 TBX4 NM_001321120.2(TBX4):c.108G>T (p.Ala36=) SNV Uncertain significance 324244 rs886053186 17:59533959-59533959 17:61456598-61456598
38 TBX4 NM_001321120.2(TBX4):c.*98_*99GT[27] Microsatellite Uncertain significance 324272 rs149977669 17:59560974-59560975 17:61483613-61483614
39 TBX4 NM_001321120.2(TBX4):c.*136_*139del Deletion Uncertain significance 324275 rs886053189 17:59561012-59561015 17:61483651-61483654
40 TBX4 NM_001321120.2(TBX4):c.*98_*99GT[25] Microsatellite Uncertain significance 324270 rs149977669 17:59560974-59560975 17:61483613-61483614
41 TBX4 NM_001321120.2(TBX4):c.*98_*99GT[18] Microsatellite Uncertain significance 324273 rs149977669 17:59560975-59560978 17:61483614-61483617
42 TBX4 NM_001321120.2(TBX4):c.335A>G (p.Lys112Arg) SNV Likely benign 324250 rs377571192 17:59543233-59543233 17:61465872-61465872
43 TBX4 NM_001321120.2(TBX4):c.1073C>T (p.Ala358Val) SNV Likely benign 324258 rs147641113 17:59560309-59560309 17:61482948-61482948
44 TBX4 NM_001321120.2(TBX4):c.1105C>T (p.Arg369Cys) SNV Likely benign 891902 17:59560341-59560341 17:61482980-61482980
45 TBX4 NM_001321120.2(TBX4):c.*313A>C SNV Likely benign 324279 rs141279587 17:59561190-59561190 17:61483829-61483829
46 TBX4 NM_001321120.2(TBX4):c.*759A>G SNV Benign 891956 17:59561636-59561636 17:61484275-61484275
47 TBX4 NM_001321120.2(TBX4):c.*8G>A SNV Benign 890137 17:59560885-59560885 17:61483524-61483524
48 TBX4 NM_001321120.2(TBX4):c.399A>T (p.Lys133Asn) SNV Benign 890660 17:59543297-59543297 17:61465936-61465936
49 TBX4 NM_001321120.2(TBX4):c.595G>A (p.Val199Ile) SNV Benign 890661 17:59556033-59556033 17:61478672-61478672
50 TBX4 NM_001321120.2(TBX4):c.402-8G>A SNV Benign 261034 rs758596 17:59544863-59544863 17:61467502-61467502

UniProtKB/Swiss-Prot genetic disease variations for Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension:

73
# Symbol AA change Variation ID SNP ID
1 TBX4 p.Gly248Val VAR_026745 rs28938474
2 TBX4 p.Gln531Arg VAR_026746 rs28936696

Expression for Ischiocoxopodopatellar Syndrome with or Without Pulmonary...

Search GEO for disease gene expression data for Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension.

Pathways for Ischiocoxopodopatellar Syndrome with or Without Pulmonary...

Pathways related to Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.8 PSEN1 MAPT APP APOE
2
Show member pathways
11.52 SFTPD SFTPC SFTPB SFTPA2 SFTPA1
3 11.38 SFTPC SFTPA2 SFTPA1
4
Show member pathways
11.21 SFTPD SFTPA2 SFTPA1
5 11.21 PSEN1 MAPT APP APOE
6
Show member pathways
10.99 SFTPD SFTPC SFTPB SFTPA2 SFTPA1
7 10.66 SEPHS2 PSTK
8
Show member pathways
10.42 SFTPD SFTPC SFTPB SFTPA2 SFTPA1

GO Terms for Ischiocoxopodopatellar Syndrome with or Without Pulmonary...

Cellular components related to Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 10.11 SFTPD SFTPC SFTPB SFTPA2 SFTPA1 SERPINA3
2 extracellular region GO:0005576 10.07 SFTPD SFTPC SFTPB SFTPA2 SFTPA1 SERPINA3
3 endoplasmic reticulum membrane GO:0005789 9.95 SFTPD SFTPC SFTPB SFTPA2 SFTPA1 PSEN1
4 early endosome GO:0005769 9.84 PSEN1 CD4 APP APOE
5 membrane raft GO:0045121 9.72 PSEN1 MAPT CD4 APP ABCG2
6 collagen trimer GO:0005581 9.7 SFTPD SFTPA2 SFTPA1
7 multivesicular body GO:0005771 9.56 SFTPD SFTPB SFTPA2 SFTPA1
8 rough endoplasmic reticulum GO:0005791 9.55 SFTPD SFTPA2 SFTPA1 PSEN1 APP
9 ciliary rootlet GO:0035253 9.49 PSEN1 APP
10 multivesicular body lumen GO:0097486 9.48 SFTPC SFTPB
11 main axon GO:0044304 9.46 MAPT APP
12 alveolar lamellar body GO:0097208 9.43 SFTPC SFTPB
13 lamellar body GO:0042599 9.26 SFTPC SFTPB SFTPA2 SFTPA1
14 clathrin-coated endocytic vesicle GO:0045334 9.02 SFTPD SFTPC SFTPB SFTPA2 SFTPA1

Biological processes related to Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.9 PSEN1 MAPT APP APOE
2 lung development GO:0030324 9.77 TBX5 TBX4 SP3
3 learning or memory GO:0007611 9.69 PSEN1 MAPT APP
4 synapse organization GO:0050808 9.67 PSEN1 MAPT APP
5 embryonic limb morphogenesis GO:0030326 9.65 TBX5 TBX4 PSEN1
6 toll-like receptor signaling pathway GO:0002224 9.63 SFTPD SFTPA2 SFTPA1
7 negative regulation of long-term synaptic potentiation GO:1900272 9.58 APP APOE
8 amyloid fibril formation GO:1990000 9.58 MAPT APP
9 amyloid precursor protein metabolic process GO:0042982 9.57 PSEN1 APOE
10 neuron projection maintenance GO:1990535 9.56 PSEN1 APP
11 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.55 PSEN1 APP
12 modulation of age-related behavioral decline GO:0090647 9.54 PSEN1 APP
13 cell fate specification GO:0001708 9.54 TBX5 TBX4 PSEN1
14 selenocysteine incorporation GO:0001514 9.52 TRNAU1AP PSTK
15 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.43 PSEN1 APP
16 astrocyte activation GO:0048143 9.43 PSEN1 MAPT APP
17 astrocyte activation involved in immune response GO:0002265 9.4 PSEN1 APP
18 respiratory gaseous exchange GO:0007585 9.35 SFTPD SFTPC SFTPB SFTPA2 SFTPA1
19 positive regulation of amyloid fibril formation GO:1905908 9.33 PSEN1 APP APOE
20 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 9.32 PSEN1 APP
21 cellular protein metabolic process GO:0044267 9.23 SFTPD SFTPC SFTPB SFTPA2 SFTPA1 PSEN1

Molecular functions related to Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor receptor binding GO:0070851 8.96 PSEN1 APP
2 lipoprotein particle binding GO:0071813 8.62 MAPT APOE

Sources for Ischiocoxopodopatellar Syndrome with or Without Pulmonary...

3 CDC
7 CNVD
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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
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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