MCID: HMM005
MIFTS: 33

Hemimelia

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Hemimelia

MalaCards integrated aliases for Hemimelia:

Name: Hemimelia 58
Longitudinal Meromelia 58

Characteristics:

Orphanet epidemiological data:

58
hemimelia
Inheritance: Not applicable; Age of onset: Neonatal;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q71.8 Q72.8 Q73.8
UMLS via Orphanet 71 C0018987
Orphanet 58 ORPHA2130
SNOMED-CT via HPO 68 63567004 87979003

Summaries for Hemimelia

MalaCards based summary : Hemimelia, also known as longitudinal meromelia, is related to tibia, hypoplasia or aplasia of, with polydactyly and tibial hemimelia. An important gene associated with Hemimelia is THMA (Tibial Hemimelia), and among its related pathways/superpathways are Pathways in cancer and Signaling by Hedgehog. Affiliated tissues include spleen, and related phenotypes are cleft palate and abnormality of the ankles

Related Diseases for Hemimelia

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

(show top 50) (show all 103)
# Related Disease Score Top Affiliating Genes
1 tibia, hypoplasia or aplasia of, with polydactyly 32.1 ZRS GLI3
2 tibial hemimelia 31.6 ZRS THMA PITX1 GLI3
3 synostosis 29.9 GLI3 BHLHA9
4 split hand-foot malformation 29.6 GLI2 BHLHA9
5 acrocallosal syndrome 29.5 GLI3 GLI1
6 chromosome 2q35 duplication syndrome 28.9 GLI3 GLI2 GLI1 BHLHA9
7 polydactyly 28.6 ZRS PITX1 GLI3 GLI2 GLI1 BHLHA9
8 fibular hemimelia 11.7
9 tibial aplasia-ectrodactyly syndrome 11.1
10 radial hemimelia 11.0
11 ulnar hemimelia 11.0
12 split-hand/foot malformation with long bone deficiency 1 10.9
13 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.9
14 acromelic frontonasal dysostosis 10.9
15 amelia and terminal transverse hemimelia 10.9
16 hypoplasia of the tibia with polydactyly 10.9
17 complete hemimelia 10.9
18 acheiropody 10.9
19 oculomaxillofacial dysostosis 10.9
20 split-hand/foot malformation 1 10.2
21 isolated split hand-split foot malformation 10.2
22 femur, unilateral bifid, with monodactylous ectrodactyly 10.2
23 clubfoot 10.2
24 congenital femoral deficiency 10.1
25 femur bifid with monodactylous ectrodactyly 10.1
26 tarsal coalition 10.1
27 trichorhinophalangeal syndrome, type ii 10.0
28 syndactyly, type iv 10.0 ZRS GLI3
29 short-rib thoracic dysplasia 14 with polydactyly 10.0 GLI3 GLI1
30 cornelia de lange syndrome 1 9.9
31 chromosome 17p13.3, telomeric, duplication syndrome 9.9
32 omphalocele 9.9
33 cornelia de lange syndrome 9.9
34 dysostosis 9.9
35 cleft lip 9.9
36 trichorhinophalangeal syndrome 9.9
37 cleft lip/palate 9.9
38 femoral agenesis/hypoplasia 9.9
39 polydactyly, postaxial, type a1 9.9 GLI3 GLI1
40 culler-jones syndrome 9.8 GLI3 GLI2
41 white-sutton syndrome 9.8 GLI3 GLI2
42 esophageal atresia 9.8 GLI3 GLI2
43 holoprosencephaly 3 9.8 ZRS GLI2
44 aplasia cutis congenita, nonsyndromic 9.8
45 exostoses, multiple, type i 9.8
46 holt-oram syndrome 9.8
47 humeroradial synostosis 9.8
48 hypertelorism 9.8
49 lipomatosis, multiple 9.8
50 polydactyly, preaxial ii 9.8

Graphical network of the top 20 diseases related to Hemimelia:



Diseases related to Hemimelia

Symptoms & Phenotypes for Hemimelia

Human phenotypes related to Hemimelia:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 cleft palate 31 hallmark (90%) HP:0000175
2 abnormality of the ankles 31 hallmark (90%) HP:0003028
3 non-midline cleft lip 31 hallmark (90%) HP:0100335
4 disproportionate short-limb short stature 31 hallmark (90%) HP:0008873
5 aplasia/hypoplasia of the tibia 31 hallmark (90%) HP:0005772
6 abnormality of the knee 31 hallmark (90%) HP:0002815

MGI Mouse Phenotypes related to Hemimelia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.26 GLI1 GLI2 GLI3 PITX1
2 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:

40
Spleen

Publications for Hemimelia

Articles related to Hemimelia:

(show top 50) (show all 370)
# Title Authors PMID Year
1
Four Unusual Cases of Congenital Forelimb Malformations in Dogs. 61
33799336 2021
2
Limb Lengthening for Congenital Deficiencies Using External Fixation Combined With Flexible Intramedullary Nailing: A Multicenter Study. 61
33782369 2021
3
Embryology of the Lower Limb Demonstrates That Congenital Absent Fibula Is a Radiologic Misnomer. 61
33773063 2021
4
Complete urorectal septal malformation with left hemimelia in a neonate: an uncommon association. 61
33766971 2021
5
Prenatal diagnosis of tibial hemimelia type I and omphalocele, a rare entity and postnatal correlation. 61
33614110 2021
6
Usual Presentation Has Odds: Unilateral Tibial Hemimelia in One of Dizygotic Twins. 61
33633877 2021
7
Successful thoracoscopic treatment for tracheoesophageal fistula and esophageal atresia of communicating bronchopulmonary foregut malformation group IB with dextrocardia: a case report of VACTERL association. 61
33409676 2021
8
Physical performance of children with longitudinal fibular deficiency (fibular hemimelia). 61
33331793 2020
9
Three-dimensional correction of fibular hemimelia using a computer-assisted planning : technical report and literature review. 61
33581021 2020
10
Amputation Versus Limb Reconstruction for Fibula Hemimelia: A Meta-analysis. 61
31972725 2020
11
Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability. 61
32598510 2020
12
Association of upper limb meromelia, proximal focal femoral deficiency, fibular hemimelia, and intermetatarsal coalition in a young adult male. 61
32382373 2020
13
An unusual phenotype of radial longitudinal deficiency (radial hemimelia) presenting in a young adult male. 61
32308776 2020
14
An unusual association of ulnar hemimelia with mesoaxial synostotic syndactyly. 61
32201614 2020
15
Management of severe congenital flexion deformity of the knee using Ilizarov method. 61
30807513 2020
16
Management of a Broken PRECICE Femoral Nail at an Ununited Distraction Osteogenesis Site: A Case Report. 61
32224648 2020
17
Isolated unilateral proximal focal femoral deficiency presenting in a young woman. 61
31969407 2020
18
Use of Paley Classification and SUPERankle Procedure in the Management of Fibular Hemimelia. 61
31503232 2019
19
Lengthening With Monolateral External Fixation Versus Magnetically Motorized Intramedullary Nail in Congenital Femoral Deficiency. 61
31503231 2019
20
Toe-to-Hand Transfer in an Ulnar Hemimelia Patient: A Case Report. 61
31524738 2019
21
A High Prevalence Rate of Tibia Hemimelia in a Subregion of West Azarbaijan, Iran. 61
31406619 2019
22
Fetal fibular hemimelia with focal femoral deficiency: A case report. 61
31673475 2019
23
Postaxial hypoplasia of the lower extremity (fibular hemimelia) presenting in a young adult male. 61
31236184 2019
24
Ulnar hemimelia: a report of four cases. 61
30712123 2019
25
Clinical spectrum of congenital tibial hemimelia in 35 limbs of 24 patients: A single center observational study from India. 61
31078790 2019
26
Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature. 61
31200655 2019
27
Bone healing is achievable despite extensive wound dehiscence and wide plate and screws exposure in children. 61
28336328 2019
28
Amputation Versus Staged Reconstruction for Severe Fibular Hemimelia: Assessment of Psychosocial and Quality-of-Life Status and Physical Functioning in Childhood. 61
31334463 2019
29
Lower Extremity Surgical Treatment to Improve Function in a Patient with Gollop-Wolfgang Complex: A Case Report. 61
31211748 2019
30
Type-I Tibial Hemimelia: A Limb-Salvage and Lengthening Technique. 61
31161149 2019
31
Optimizing the use of fibula in type II tibial hemimelia: early results. 61
30234726 2019
32
Longitudinal Fibular Deficiency: A Cross-Sectional Study Comparing Lower Limb Function of Children and Young People with That of Unaffected Peers. 61
30875935 2019
33
Effects of the Y-chromosome and the dominant hemimelia mutation on the morphology of the mouse mandible. 61
29722137 2019
34
Hemiepiphysiodesis using tension band plates: does the initial screw angle influence the rate of correction? 61
30838077 2019
35
Lower-extremity growth patterns and skeletal maturation in children with unilateral fibular hemimelia. 61
30269159 2019
36
Hybrid ACL reconstruction in a 6-year-old female with fibular hemimelia. 61
30719315 2019
37
Asymmetric limb lengthening in the treatment of tibial hemimelia caused by osteomyelitis: A case report. 61
30653110 2019
38
Upper Limb Meromelia with Oligodactyly and Brachymesophalangy of the Foot: An Unusual Association. 61
31341693 2019
39
Proximal Preaxial Hallucal Polysyndactyly with Tibial Hemimelia: Diabetic Embryopathy. 61
30172433 2018
40
Constant inhibition in congenital lower extremity shortening: does it begin in utero? 61
29797037 2018
41
The syndrome of proximal femur, fibula, and midline metatarsal long bone deficiencies. 61
30152124 2018
42
Ankle reconstruction and lengthening strategy in type II fibular hemimelia: a report of two cases. 61
30041040 2018
43
Bilateral Radial Agenesis in a Cat Treated with Bilateral Ulnocarpal Arthrodesis. 61
29925092 2018
44
Anterior and posterior cruciate ligament agenesis. 61
30151108 2018
45
A rare case of tibial hemimelia, surgical technique and clinical results. 61
29248252 2018
46
Bilateral fibular hemimelia associated with hip dislocation and femoral head necrosis. 61
29744100 2018
47
Spinal dysraphism and dislocated hip: Beware of anomalous sciatic nerve through Ilium, a case report. 61
29561460 2018
48
Femoral bifurcation and bilateral tibial hemimelia: case report. 61
30344883 2018
49
Postaxial limb hypoplasia (PALH): the classification, clinical features, and related developmental biology. 61
28990185 2017
50
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. 61
28934068 2017

Variations for Hemimelia

Expression for Hemimelia

Search GEO for disease gene expression data for Hemimelia.

Pathways for Hemimelia

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 regulation of transcription by RNA polymerase II GO:0006357 10 PITX1 GLI3 GLI2 GLI1 BHLHA9
2 multicellular organism development GO:0007275 9.96 PITX1 GLI2 GLI1 BHLHA9
3 positive regulation of transcription by RNA polymerase II GO:0045944 9.96 PITX1 GLI3 GLI2 GLI1
4 lung development GO:0030324 9.73 GLI3 GLI2 GLI1
5 smoothened signaling pathway GO:0007224 9.69 GLI3 GLI2 GLI1
6 anatomical structure development GO:0048856 9.65 GLI3 GLI2
7 odontogenesis of dentin-containing tooth GO:0042475 9.65 GLI3 GLI2
8 pattern specification process GO:0007389 9.65 GLI3 GLI2
9 embryonic digit morphogenesis GO:0042733 9.64 GLI3 GLI2
10 neural tube development GO:0021915 9.64 GLI3 GLI2
11 liver regeneration GO:0097421 9.63 GLI3 GLI1
12 mammary gland development GO:0030879 9.63 GLI3 GLI2
13 positive regulation of DNA replication GO:0045740 9.62 GLI2 GLI1
14 branching morphogenesis of an epithelial tube GO:0048754 9.62 GLI3 GLI2
15 developmental growth GO:0048589 9.61 GLI3 GLI2
16 negative regulation of smoothened signaling pathway GO:0045879 9.61 GLI3 GLI2
17 spinal cord motor neuron differentiation GO:0021522 9.59 GLI3 GLI2
18 anatomical structure formation involved in morphogenesis GO:0048646 9.58 GLI3 GLI2
19 embryonic digestive tract development GO:0048566 9.58 GLI3 GLI2
20 prostate gland development GO:0030850 9.57 GLI3 GLI1
21 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.55 GLI3 GLI2
22 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation GO:0021938 9.54 GLI2 GLI1
23 spinal cord dorsal/ventral patterning GO:0021513 9.52 GLI3 GLI2
24 cerebellar cortex morphogenesis GO:0021696 9.49 GLI2 GLI1
25 hindgut morphogenesis GO:0007442 9.48 GLI3 GLI2
26 regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:1901620 9.46 GLI3 GLI2
27 tube development GO:0035295 9.43 GLI3 GLI2
28 dorsal/ventral pattern formation GO:0009953 9.43 GLI3 GLI2 GLI1
29 smoothened signaling pathway involved in spinal cord motor neuron cell fate specification GO:0021776 9.4 GLI3 GLI2
30 smoothened signaling pathway involved in ventral spinal cord interneuron specification GO:0021775 9.37 GLI3 GLI2
31 ventral midline development GO:0007418 9.32 GLI2 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 sequence-specific double-stranded DNA binding GO:1990837 9.58 PITX1 GLI3 GLI2
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.56 PITX1 GLI3 GLI2 GLI1
3 DNA binding GO:0003677 9.55 PITX1 GLI3 GLI2 GLI1 BHLHA9
4 sequence-specific DNA binding GO:0043565 9.54 GLI3 GLI2 GLI1
5 chromatin binding GO:0003682 9.5 GLI3 GLI2 GLI1
6 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.35 PITX1 GLI3 GLI2 GLI1 BHLHA9
7 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 8.92 GLI3 GLI2 GLI1 BHLHA9

Sources for Hemimelia

3 CDC
7 CNVD
9 Cosmic
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
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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