MCID: MRR004
MIFTS: 31

Mirror-Image Polydactyly malady

Bone diseases, Fetal diseases, Rare diseases categories

Summaries for Mirror-Image Polydactyly

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Sources:
48OMIM, 34MalaCards
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MalaCards: Mirror-Image Polydactyly, also known as laurin-sandrow syndrome, is related to polydactyly and clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, and has symptoms including tibia anomaly (excluding short)/absence/agenesis/hypoplasia/tibial ray anomaly, downturned mouth and thumb hypoplasia/aplasia/absence. An important gene associated with Mirror-Image Polydactyly is MIPOL1 (mirror-image polydactyly 1). Affiliated tissues include testes and bone.

Description from OMIM:48 135750

Aliases & Classifications for Mirror-Image Polydactyly

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Sources:
48OMIM, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases, Rare diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

50
laurin-sandrow syndrome:
Inheritance: Autosomal dominant


Aliases & Descriptions:

mirror-image polydactyly 48
laurin-sandrow syndrome 50 63
mirror hands and feets - nasal defects 50
sandrow syndrome 50


External Ids:

OMIM48 135750
MESH via Orphanet37 C535689
ICD10 via Orphanet27 Q87.2
UMLS via Orphanet64 C1851100

Related Diseases for Mirror-Image Polydactyly

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Mirror-Image Polydactyly via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1polydactyly10.7
2clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly10.5
3laurin-sandrow syndrome10.4
4nasopharyngitis10.2

Symptoms for Mirror-Image Polydactyly

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Sources:
48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

135750

Clinical features from OMIM:

135750

Symptoms:

50 (show all 26)
  • tibia anomaly (excluding short)/absence/agenesis/hypoplasia/tibial ray anomaly
  • downturned mouth
  • thumb hypoplasia/aplasia/absence
  • preaxial polydactyly (hand)
  • syndactyly of toes
  • tarsal anomaly/fusion/synostosis
  • nasal atrophy/hypoplasia/arhinia/rudimentary nose
  • short columella/depressed nasal tip
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • preaxial polydactyly of toes/big toe duplication
  • limb duplication/dimelia/ulnar/fibular dimelia/diplopodia
  • thin/hypoplastic ala nasi
  • talipes-varus/metatarsal varus
  • syndactyly of fingers/interdigital palm
  • corpus callosum/septum pellucidum total/partial agenesis
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal dominant inheritance
  • hydrocephaly
  • hypotonia
  • broad nose/nasal bridge
  • restricted joint mobility/joint stiffness/ankylosis
  • metacarpal anomalies/archibald's sign
  • wrist/carpal anomalies
  • long/large/bulbous nose
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • hypertelorism

Drugs & Therapeutics for Mirror-Image Polydactyly

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Mirror-Image Polydactyly

Drug clinical trials:

Search ClinicalTrials for Mirror-Image Polydactyly

Search NIH Clinical Center for Mirror-Image Polydactyly

Search CenterWatch for Mirror-Image Polydactyly

Genetic Tests for Mirror-Image Polydactyly

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Anatomical Context for Mirror-Image Polydactyly

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Sources:
34MalaCards
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MalaCards organs/tissues related to Mirror-Image Polydactyly:

34
Testes, Bone

Animal Models for Mirror-Image Polydactyly or affiliated genes

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Publications for Mirror-Image Polydactyly

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Sources:
53PubMed
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Articles related to Mirror-Image Polydactyly:

idTitleAuthorsYear
1
Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly. (22258522)
2012
2
Chromosome 14 transfer and functional studies identify a candidate tumor suppressor gene, mirror image polydactyly 1, in nasopharyngeal carcinoma. (19667180)
2009
3
Tibial aplasia, lower extremity mirror image polydactyly, brachyphalangy, craniofacial dysmorphism and genital hypoplasia: further delineation and mutational analysis. (15057119)
2004
4
A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet. (11954550)
2002
5
A sporadic case of tetramelic mirror-image polydactyly and unilateral tibial hypoplasia without associated anomalies. (10473163)
1999
6
A 1.2-megabase BAC/PAC contig spanning the 14q13 breakpoint of t(2; 14) in a mirror-image polydactyly patient. (9339355)
1997
7
Tetramelic mirror-image polydactyly and a de novo balanced translocation between 2p23.3 and 14q13. (8986279)
1997
8
Molecular mapping of a translocation breakpoint at 14q13 in a patient with mirror-image polydactyly of hands and feet. (9099832)
1997

Variations for Mirror-Image Polydactyly

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Expression for genes affiliated with Mirror-Image Polydactyly

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mirror-Image Polydactyly

Search GEO for disease gene expression data for Mirror-Image Polydactyly.

Pathways for genes affiliated with Mirror-Image Polydactyly

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Compounds for genes affiliated with Mirror-Image Polydactyly

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GO Terms for genes affiliated with Mirror-Image Polydactyly

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Sources:
17Gene Ontology
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Cellular components related to Mirror-Image Polydactyly according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:0056679.0FOXA1, PITX1

Molecular functions related to Mirror-Image Polydactyly according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding transcription factor activityGO:0037009.0FOXA1, PITX1
2sequence-specific DNA bindingGO:0435658.7FOXA1, PITX1

Products for genes affiliated with Mirror-Image Polydactyly

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mirror-Image Polydactyly

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet