MCID: MRR004
MIFTS: 26

Mirror-Image Polydactyly malady

Bone diseases, Fetal diseases categories

Summaries for Mirror-Image Polydactyly

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Sources:
46OMIM, 32MalaCards
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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 wrist/carpal anomalies, tibia anomaly (excluding short)/absence/agenesis/hypoplasia/tibial ray anomaly and talipes-varus/metatarsal varus. An important gene associated with Mirror-Image Polydactyly is MIPOL1 (mirror-image polydactyly 1). Affiliated tissues include testes and bone.

Description from OMIM:46 135750

Aliases & Classifications for Mirror-Image Polydactyly

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Sources:
48Orphanet, 60UMLS, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
laurin-sandrow syndrome:
Inheritance: Autosomal dominant


Aliases & Descriptions:

mirror-image polydactyly 46
laurin-sandrow syndrome 48 60
mirror hands and feets - nasal defects 48
sandrow syndrome 48


External Ids:

OMIM46 135750
MESH via Orphanet35 C535689
ICD10 via Orphanet26 Q87.2
UMLS via Orphanet61 C1851100

Related Diseases for Mirror-Image Polydactyly

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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
1polydactyly10.6
2clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly10.4
3laurin-sandrow syndrome10.3
4nasopharyngitis10.2

Clinical Features for Mirror-Image Polydactyly

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

135750

Clinical synopsis from OMIM:

135750

Symptoms:

48 (show all 26)
  • 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
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • limb duplication/dimelia/ulnar/fibular dimelia/diplopodia
  • 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
  • metacarpal anomalies/archibald's sign

Drugs & Therapeutics for Mirror-Image Polydactyly

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Sources:
5CenterWatch, 41NIH 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

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Anatomical Context for Mirror-Image Polydactyly

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Sources:
32MalaCards
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MalaCards organs/tissues related to Mirror-Image Polydactyly:

32
Testes, Bone

Animal Models for Mirror-Image Polydactyly or affiliated genes

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Publications for Mirror-Image Polydactyly

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Genetic Variations for Mirror-Image Polydactyly

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Expression for genes affiliated with Mirror-Image Polydactyly

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Sources:
1BioGPS, 15Gene 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:
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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mirror-Image Polydactyly

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet