MCID: MRR004
MIFTS: 25

Mirror-Image Polydactyly malady

Bone, Fetal categories

Summaries for Mirror-Image Polydactyly

Sources:
47OMIM, 33MalaCards
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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 metacarpal anomalies/archibald's sign, syndactyly of fingers/interdigital palm and preaxial polydactyly (hand). An important gene associated with Mirror-Image Polydactyly is MIPOL1 (mirror-image polydactyly 1).

Description from OMIM:47 135750

Aliases & Classifications for Mirror-Image Polydactyly

Sources:
49Orphanet, 61UMLS, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
laurin-sandrow syndrome:
Inheritance: Autosomal dominant


Aliases & Descriptions:

mirror-image polydactyly 47
laurin-sandrow syndrome 49 61
mirror hands and feets - nasal defects 49
sandrow syndrome 49


External Ids:

OMIM47 135750
MESH via Orphanet36 C535689
ICD10 via Orphanet26 Q87.2
UMLS via Orphanet62 C1851100

Related Diseases for Mirror-Image Polydactyly

Sources:
17GeneCards, 18GeneDecks
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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 polydactyly10.4
3n syndrome10.4
4laurin-sandrow syndrome10.3

Clinical Features for Mirror-Image Polydactyly

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

135750

Clinical synopsis from OMIM:

135750

Symptoms:

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

Drugs & Therapeutics for Mirror-Image Polydactyly

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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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

Anatomical Context for Mirror-Image Polydactyly

Animal Models for Mirror-Image Polydactyly or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Mirror-Image Polydactyly

Sources:
51PubMed
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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

Genetic Variations for Mirror-Image Polydactyly

Expression for genes affiliated with Mirror-Image Polydactyly

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Compounds for genes affiliated with Mirror-Image Polydactyly

GO Terms for genes affiliated with Mirror-Image Polydactyly

Sources:
16Gene Ontology
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Cellular components related to Mirror-Image Polydactyly according to GeneCards/GeneDecks:

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

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

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:0435659.0PITX1, FOXA1

Products for genes affiliated with Mirror-Image Polydactyly

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mirror-Image Polydactyly

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet