MCID: HMM005
MIFTS: 36

Hemimelia

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Hemimelia

MalaCards integrated aliases for Hemimelia:

Name: Hemimelia 59
Longitudinal Meromelia 59

Characteristics:

Orphanet epidemiological data:

59
hemimelia
Inheritance: Not applicable; Age of onset: Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 34 Q71.8 Q72.8 Q73.8
UMLS via Orphanet 73 C0018987
Orphanet 59 ORPHA2130

Summaries for Hemimelia

MalaCards based summary : Hemimelia, also known as longitudinal meromelia, is related to tibial hemimelia and synostosis. An important gene associated with Hemimelia is PITX1 (Paired Like Homeodomain 1), and among its related pathways/superpathways are Pathways in cancer and Signaling by Hedgehog. Affiliated tissues include bone, spleen and lymph node, and related phenotypes are cleft palate and non-midline cleft lip

Related Diseases for Hemimelia

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

(show top 50) (show all 101)
# Related Disease Score Top Affiliating Genes
1 tibial hemimelia 33.0 ZRS THMA PITX1 GLI3
2 synostosis 30.4 GLI3 BHLHA9
3 talipes equinovarus 29.9 PITX1 GLI3
4 chromosome 2q35 duplication syndrome 29.5 GLI3 BHLHA9
5 fibular hemimelia 12.7
6 radial hemimelia 12.3
7 ulnar hemimelia 12.3
8 amelia and terminal transverse hemimelia 12.1
9 obsolete: ulnar hemimelia, unilateral 12.1
10 obsolete: ulnar hemimelia, bilateral 12.1
11 obsolete: tibial hemimelia, bilateral 12.1
12 obsolete: tibial hemimelia, unilateral 12.1
13 obsolete: fibular hemimelia, bilateral 12.1
14 obsolete: fibular hemimelia, unilateral 12.1
15 obsolete: radial hemimelia, bilateral 12.1
16 obsolete: radial hemimelia, unilateral 12.1
17 complete hemimelia 12.1
18 tibia, hypoplasia or aplasia of, with polydactyly 11.7
19 tibial aplasia-ectrodactyly syndrome 11.6
20 split-hand/foot malformation with long bone deficiency 1 11.5
21 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 11.5
22 acromelic frontonasal dysostosis 11.5
23 acheiropody 11.2
24 absence of tibia with polydactyly 11.2
25 oculomaxillofacial dysostosis 11.2
26 hypoplasia of the tibia with polydactyly 11.1
27 polydactyly 10.5
28 split-hand/foot malformation 1 10.4
29 isolated split hand-split foot malformation 10.4
30 femur, unilateral bifid, with monodactylous ectrodactyly 10.4
31 congenital femoral deficiency 10.3
32 femur bifid with monodactylous ectrodactyly 10.3
33 tarsal coalition 10.3
34 clubfoot 10.3
35 trichorhinophalangeal syndrome, type ii 10.2
36 split hand-foot malformation 10.2
37 cornelia de lange syndrome 1 10.1
38 chromosome 17p13.3, telomeric, duplication syndrome 10.1
39 cornelia de lange syndrome 10.1
40 dysostosis 10.1
41 cleft lip 10.1
42 trichorhinophalangeal syndrome 10.1
43 cleft lip/palate 10.1
44 femoral agenesis/hypoplasia 10.1
45 laurin-sandrow syndrome 10.1 ZRS PITX1
46 exostoses, multiple, type i 10.0
47 holt-oram syndrome 10.0
48 humeroradial synostosis 10.0
49 hypertelorism 10.0
50 lipomatosis, multiple 10.0

Graphical network of the top 20 diseases related to Hemimelia:



Diseases related to Hemimelia

Symptoms & Phenotypes for Hemimelia

Human phenotypes related to Hemimelia:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000175
2 non-midline cleft lip 59 32 hallmark (90%) Very frequent (99-80%) HP:0100335
3 abnormality of the ankles 59 32 hallmark (90%) Very frequent (99-80%) HP:0003028
4 disproportionate short-limb short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0008873
5 abnormality of the knee 59 32 hallmark (90%) Very frequent (99-80%) HP:0002815
6 aplasia/hypoplasia of the tibia 59 32 hallmark (90%) Very frequent (99-80%) HP:0005772

MGI Mouse Phenotypes related to Hemimelia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.46 GLI1 GLI2 GLI3 PITX1
2 digestive/alimentary MP:0005381 9.26 GLI1 GLI2 GLI3 PITX1
3 limbs/digits/tail MP:0005371 9.02 BHLHA9 GLI1 GLI2 GLI3 PITX1

Drugs & Therapeutics for Hemimelia

Search Clinical Trials , NIH Clinical Center for Hemimelia

Genetic Tests for Hemimelia

Anatomical Context for Hemimelia

MalaCards organs/tissues related to Hemimelia:

41
Bone, Spleen, Lymph Node

Publications for Hemimelia

Articles related to Hemimelia:

(show top 50) (show all 353)
# Title Authors PMID Year
1
A High Prevalence Rate of Tibia Hemimelia in a Subregion of West Azarbaijan, Iran. 38
31406619 2019
2
Postaxial hypoplasia of the lower extremity (fibular hemimelia) presenting in a young adult male. 38
31236184 2019
3
Ulnar hemimelia: a report of four cases. 38
30712123 2019
4
Clinical spectrum of congenital tibial hemimelia in 35 limbs of 24 patients: A single center observational study from India. 38
31078790 2019
5
Toe-to-Hand Transfer in an Ulnar Hemimelia Patient: A Case Report. 38
31335463 2019
6
Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature. 38
31200655 2019
7
Bone healing is achievable despite extensive wound dehiscence and wide plate and screws exposure in children. 38
28336328 2019
8
Amputation Versus Staged Reconstruction for Severe Fibular Hemimelia: Assessment of Psychosocial and Quality-of-Life Status and Physical Functioning in Childhood. 38
31334463 2019
9
Lower Extremity Surgical Treatment to Improve Function in a Patient with Gollop-Wolfgang Complex: A Case Report. 38
31211748 2019
10
Optimizing the use of fibula in type II tibial hemimelia: early results. 38
30234726 2019
11
Type-I Tibial Hemimelia: A Limb-Salvage and Lengthening Technique. 38
31161149 2019
12
Longitudinal Fibular Deficiency: A Cross-Sectional Study Comparing Lower Limb Function of Children and Young People with That of Unaffected Peers. 38
30875935 2019
13
Effects of the Y-chromosome and the dominant hemimelia mutation on the morphology of the mouse mandible. 38
29722137 2019
14
Hemiepiphysiodesis using tension band plates: does the initial screw angle influence the rate of correction? 38
30838077 2019
15
Management of severe congenital flexion deformity of the knee using Ilizarov method. 38
30807513 2019
16
Upper Limb Meromelia with Oligodactyly and Brachymesophalangy of the Foot: An Unusual Association. 38
31341693 2019
17
Asymmetric limb lengthening in the treatment of tibial hemimelia caused by osteomyelitis: A case report. 38
30653110 2019
18
Lower-extremity growth patterns and skeletal maturation in children with unilateral fibular hemimelia. 38
30269159 2019
19
Hybrid ACL reconstruction in a 6-year-old female with fibular hemimelia. 38
30719315 2019
20
Proximal Preaxial Hallucal Polysyndactyly with Tibial Hemimelia: Diabetic Embryopathy. 38
30172433 2018
21
Ankle reconstruction and lengthening strategy in type II fibular hemimelia: a report of two cases. 38
30041040 2018
22
The syndrome of proximal femur, fibula, and midline metatarsal long bone deficiencies. 38
30152124 2018
23
Constant inhibition in congenital lower extremity shortening: does it begin in utero? 38
29797037 2018
24
Bilateral Radial Agenesis in a Cat Treated with Bilateral Ulnocarpal Arthrodesis. 38
29925092 2018
25
Anterior and posterior cruciate ligament agenesis. 38
30151108 2018
26
A rare case of tibial hemimelia, surgical technique and clinical results. 38
29248252 2018
27
Bilateral fibular hemimelia associated with hip dislocation and femoral head necrosis. 38
29744100 2018
28
Spinal dysraphism and dislocated hip: Beware of anomalous sciatic nerve through Ilium, a case report. 38
29561460 2018
29
Femoral bifurcation and bilateral tibial hemimelia: case report. 38
30344883 2018
30
Postaxial limb hypoplasia (PALH): the classification, clinical features, and related developmental biology. 38
28990185 2017
31
Upper limb hemimelia in a twin pregnancy which was obtained by an ICSI and PGD in a woman with mosaic Turner's syndrome and the prognosis. 38
28934068 2017
32
Ankle Reconstruction in Fibular Hemimelia: New Approach. 38
28690469 2017
33
Lengthening With Monolateral External Fixation Versus Magnetically Motorized Intramedullary Nail in Congenital Femoral Deficiency. 38
28746061 2017
34
Use of Paley Classification and SUPERankle Procedure in the Management of Fibular Hemimelia. 38
28557815 2017
35
Systematic radiographic evaluation of tibial hemimelia with orthopedic implications. 38
28050636 2017
36
Congenital Malformations in River Buffalo (Bubalus bubalis). 38
28208595 2017
37
FATCO Syndrome (Fibular Aplasia, Tibial Campomelia, Oligosyndactyly with Talar Aplasia). A Case Study. 38
28436373 2017
38
"Monocept": A Brief Report of Congenital Absence of the Long Head of the Biceps Tendon and Literature Review. 38
28751995 2017
39
Elucidating the genetic basis of an oligogenic birth defect using whole genome sequence data in a non-model organism, Bubalus bubalis. 38
28045068 2017
40
Tibial hemimelia: new classification and reconstructive options. 38
27909860 2016
41
Rare case of tibial hemimelia, preaxial polydactyly, and club foot. 38
28035313 2016
42
Surgical reconstruction for fibular hemimelia. 38
27909861 2016
43
Poster 477 Successful Prosthetic Rehabilitation of Fibular Hemimelia without Extensive Surgical Intervention: A Case Report. 38
27673220 2016
44
Functional Assessment in Tibial Hemimelia (Can We Also Save the Foot in Reconstruction?). 38
26019025 2016
45
Tibial hypoplasia with a bifid tibia: an unclassified tibial hemimelia. 38
27530878 2016
46
Foetal fibular hemimelia with focal femoral deficiency following prenatal misoprostol use: A case report. 38
26979810 2016
47
Unclassified tibial hemimelia. 38
27277586 2016
48
Tibial hemimelia associated with GLI3 truncation. 38
26791356 2016
49
Clinical Results and Complications of Lower Limb Lengthening for Fibular Hemimelia: A Report of Eight Cases. 38
27227952 2016
50
A Female Newborn Infant with FATCO Syndrome Variant (Fibular Hypoplasia, Tibial Campomelia, Oligosyndactyly) - A Case Report. 38
30151452 2016

Variations for Hemimelia

Expression for Hemimelia

Search GEO for disease gene expression data for Hemimelia.

Pathways for Hemimelia

Pathways related to Hemimelia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 12.22 GLI3 GLI2 GLI1
2
Show member pathways
11.97 GLI3 GLI2 GLI1
3
Show member pathways
11.29 GLI3 GLI2 GLI1
4 10.75 GLI2 GLI1
5 10.43 GLI2 GLI1

GO Terms for Hemimelia

Cellular components related to Hemimelia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 9.43 GLI3 GLI2 GLI1
2 axoneme GO:0005930 9.33 GLI3 GLI2 GLI1
3 ciliary tip GO:0097542 9.13 GLI3 GLI2 GLI1
4 ciliary base GO:0097546 8.8 GLI3 GLI2 GLI1

Biological processes related to Hemimelia according to GeneCards Suite gene sharing:

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.95 PITX1 GLI3 GLI2 GLI1
2 multicellular organism development GO:0007275 9.95 PITX1 GLI2 GLI1 BHLHA9
3 lung development GO:0030324 9.72 GLI3 GLI2 GLI1
4 smoothened signaling pathway GO:0007224 9.69 GLI3 GLI2 GLI1
5 anterior/posterior pattern specification GO:0009952 9.66 GLI3 GLI2
6 osteoblast differentiation GO:0001649 9.66 GLI2 GLI1
7 pattern specification process GO:0007389 9.65 GLI3 GLI2
8 odontogenesis of dentin-containing tooth GO:0042475 9.64 GLI3 GLI2
9 embryonic digit morphogenesis GO:0042733 9.64 GLI3 GLI2
10 neural tube development GO:0021915 9.63 GLI3 GLI2
11 liver regeneration GO:0097421 9.63 GLI3 GLI1
12 mammary gland development GO:0030879 9.62 GLI3 GLI2
13 developmental growth GO:0048589 9.62 GLI3 GLI2
14 positive regulation of DNA replication GO:0045740 9.61 GLI2 GLI1
15 branching morphogenesis of an epithelial tube GO:0048754 9.61 GLI3 GLI2
16 anatomical structure development GO:0048856 9.6 GLI3 GLI2
17 anatomical structure formation involved in morphogenesis GO:0048646 9.58 GLI3 GLI2
18 spinal cord motor neuron differentiation GO:0021522 9.58 GLI3 GLI2
19 embryonic digestive tract development GO:0048566 9.57 GLI3 GLI2
20 prostate gland development GO:0030850 9.56 GLI3 GLI1
21 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.54 GLI3 GLI2
22 spinal cord dorsal/ventral patterning GO:0021513 9.52 GLI3 GLI2
23 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation GO:0021938 9.49 GLI2 GLI1
24 hindgut morphogenesis GO:0007442 9.48 GLI3 GLI2
25 cerebellar cortex morphogenesis GO:0021696 9.46 GLI2 GLI1
26 ventral midline development GO:0007418 9.43 GLI2 GLI1
27 dorsal/ventral pattern formation GO:0009953 9.43 GLI3 GLI2 GLI1
28 tube development GO:0035295 9.4 GLI3 GLI2
29 smoothened signaling pathway involved in ventral spinal cord interneuron specification GO:0021775 9.37 GLI3 GLI2
30 smoothened signaling pathway involved in spinal cord motor neuron cell fate specification GO:0021776 9.32 GLI3 GLI2
31 regulation of smoothened signaling pathway GO:0008589 9.29 GLI1
32 notochord regression GO:0060032 9.16 GLI2 GLI1
33 pituitary gland development GO:0021983 9.13 PITX1 GLI2 GLI1
34 proximal/distal pattern formation GO:0009954 8.8 GLI3 GLI2 GLI1

Molecular functions related to Hemimelia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.55 PITX1 GLI3 GLI2 GLI1 BHLHA9
2 chromatin binding GO:0003682 9.43 GLI3 GLI2 GLI1
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.35 PITX1 GLI3 GLI2 GLI1 BHLHA9
4 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 8.92 PITX1 GLI3 GLI2 GLI1

Sources for Hemimelia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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