MCID: FCT022
MIFTS: 38

Factor Xi Deficiency, Autosomal Recessive malady

Genetic diseases, Rare diseases, Immune diseases, Blood diseases, Skin diseases, Fetal diseases categories

Aliases & Classifications for Factor Xi Deficiency, Autosomal Recessive

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Sources:
45OMIM, 9Disease Ontology, 41NIH Rare Diseases, 20GeneTests, 11DISEASES, 43Novoseek, 60UMLS, 10diseasecard, 47Orphanet, 22GTR, 33MeSH, 38NCIt, 27ICD9CM, 55SNOMED-CT, 34MESH via Orphanet, 61UMLS via Orphanet, 26ICD10 via Orphanet, 25ICD10
See all sources

Factor Xi Deficiency, Autosomal Recessive, Aliases & Descriptions:

Name: Factor Xi Deficiency, Autosomal Recessive 45
Factor Xi Deficiency 45 9 41 20 11 43 60
Plasma Thromboplastin Antecedent Deficiency 9 41 47
Factor Xi Deficiency, Autosomal Dominant 45 10
Hereditary Factor Xi Deficiency Disease 9 22
Congenital Factor Xi Deficiency 9 47
Teebi-Shaltout Syndrome 41 47
Teebi Shaltout Syndrome 41 60
 
Rosenthal Syndrome 41 47
Pta Deficiency 41 47
Hemophilia C 9 47
Craniofacial Anomalies, Abnormal Hair, Camptodactyly, and Caudal Appendage 41
Factor Xi Deficiency, Congenital 41
Rosenthal Factor Deficiency 47
Rosenthal's Disease 9
F11 Deficiency 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
teebi-shaltout syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
teebi-shaltout syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy


External Ids:

OMIM45 612416
Disease Ontology9 DOID:2229
NCIt38 C84705
ICD9CM27 286.2
SNOMED-CT55 49762007
Orphanet47 3291, 329
MESH via Orphanet34 C536950
UMLS via Orphanet61 C1848912
ICD10 via Orphanet26 D68.1
ICD1025 D68.1

Summaries for Factor Xi Deficiency, Autosomal Recessive

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OMIM:45 Factor XI deficiency is an autosomal bleeding disorder characterized by reduced levels of factor XI in plasma (less... (612416) more...

MalaCards based summary: Factor Xi Deficiency, Autosomal Recessive, also known as factor xi deficiency, is related to melkersson-rosenthal syndrome and cheilitis, and has symptoms including narrow mouth, abnormality of the palate and dolichocephaly. An important gene associated with Factor Xi Deficiency, Autosomal Recessive is F11 (coagulation factor XI). Affiliated tissues include bone and skin.

Related Diseases for Factor Xi Deficiency, Autosomal Recessive

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Graphical network of the top 20 diseases related to Factor Xi Deficiency, Autosomal Recessive:



Diseases related to factor xi deficiency, autosomal recessive

Symptoms for Factor Xi Deficiency, Autosomal Recessive

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Clinical features from OMIM:

612416

Symptoms:

 47 (show all 25)
  • dolichocephaly/scaphocephaly
  • frontal bossing/prominent forehead
  • narrow forehead
  • hypertelorism
  • micrognathia/retrognathia/micrognathism/retrognathism
  • ptosis
  • blepharophimosis/short palpebral fissures
  • long/large/bulbous nose
  • microstomia/little mouth
  • high vaulted/narrow palate
  • anodontia/oligodontia/hypodontia
  • sacral sinus/dimple
  • camptodactyly of fingers
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • fine hair
  • laryngomalacia
  • narrowed/gracile diaphysis/diaphyses/long bones/dolichostenomelia
  • microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia
  • ear cartilage deficiency
  • small/hypoplastic/adherent/absent ear lobe
  • wide rib cage/thorax
  • simian crease/transverse/unique palmar crease
  • abnormal dermatoglyphics
  • hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  • cafe-au-lait spot

HPO human phenotypes related to Factor Xi Deficiency, Autosomal Recessive:

(show all 28)
id Description Frequency HPO Source Accession
1 narrow mouth hallmark (90%) HP:0000160
2 abnormality of the palate hallmark (90%) HP:0000174
3 dolichocephaly hallmark (90%) HP:0000268
4 hypertelorism hallmark (90%) HP:0000316
5 narrow forehead hallmark (90%) HP:0000341
6 micrognathia hallmark (90%) HP:0000347
7 ptosis hallmark (90%) HP:0000508
8 blepharophimosis hallmark (90%) HP:0000581
9 sacral dimple hallmark (90%) HP:0000960
10 laryngomalacia hallmark (90%) HP:0001601
11 frontal bossing hallmark (90%) HP:0002007
12 fine hair hallmark (90%) HP:0002213
13 slender long bone hallmark (90%) HP:0003100
14 abnormal nasal morphology hallmark (90%) HP:0005105
15 reduced number of teeth hallmark (90%) HP:0009804
16 abnormal hair quantity hallmark (90%) HP:0011362
17 camptodactyly of finger hallmark (90%) HP:0100490
18 single transverse palmar crease typical (50%) HP:0000954
19 cafe-au-lait spot typical (50%) HP:0000957
20 hypohidrosis typical (50%) HP:0000966
21 aplasia/hypoplasia of the earlobes typical (50%) HP:0009906
22 enlarged thorax typical (50%) HP:0100625
23 hypoplasia of the ear cartilage typical (50%) HP:0100720
24 autosomal dominant inheritance HP:0000006
25 autosomal recessive inheritance HP:0000007
26 abnormal bleeding HP:0001892
27 reduced factor xi activity HP:0001929
28 prolonged partial thromboplastin time HP:0003645

Drugs & Therapeutics for Factor Xi Deficiency, Autosomal Recessive

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Drug clinical trials:

Search ClinicalTrials for Factor Xi Deficiency, Autosomal Recessive

Search NIH Clinical Center for Factor Xi Deficiency, Autosomal Recessive

Genetic Tests for Factor Xi Deficiency, Autosomal Recessive

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Genetic tests related to Factor Xi Deficiency, Autosomal Recessive:

id Genetic test Affiliating Genes
1 Factor Xi Deficiency20 F11
2 Hereditary Factor Xi Deficiency Disease22

Anatomical Context for Factor Xi Deficiency, Autosomal Recessive

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MalaCards organs/tissues related to Factor Xi Deficiency, Autosomal Recessive:

31
Bone, Skin

Animal Models for Factor Xi Deficiency, Autosomal Recessive or affiliated genes

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Publications for Factor Xi Deficiency, Autosomal Recessive

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Variations for Factor Xi Deficiency, Autosomal Recessive

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UniProtKB/Swiss-Prot genetic disease variations for Factor Xi Deficiency, Autosomal Recessive:

62 (show all 53)
id Symbol AA change Variation ID SNP ID
1F11p.Phe301LeuVAR_006622rs121965064
2F11p.Asp34HisVAR_012085rs281875267
3F11p.Trp246CysVAR_012086rs281875279
4F11p.Ser266AsnVAR_012087rs145168351
5F11p.Leu320ProVAR_012088rs281875268
6F11p.Thr322IleVAR_012089rs281875269
7F11p.Arg326CysVAR_012090rs28934608
8F11p.Glu341LysVAR_012091rs281875270
9F11p.Thr404AsnVAR_012092rs121965067
10F11p.Ala430ValVAR_012093rs121965068
11F11p.Phe460ValVAR_012094rs121965065
12F11p.Thr493IleVAR_012095
13F11p.Ser594ArgVAR_012096rs28934609
14F11p.Cys46PheVAR_054894rs281875271
15F11p.Cys56ArgVAR_054895rs121965069
16F11p.Lys101ArgVAR_054896rs281875272
17F11p.Tyr151CysVAR_054897rs281875273
18F11p.Cys255TyrVAR_054898rs281875277
19F11p.Gly263GluVAR_054899rs281875274
20F11p.Lys270IleVAR_054900rs121965070
21F11p.Gly418ValVAR_054901rs121965071
22F11p.Tyr511HisVAR_054902rs281875278
23F11p.Pro538LeuVAR_054903rs139695003
24F11p.Glu565LysVAR_054904rs281875275
25F11p.Trp587SerVAR_054905rs121965072
26F11p.Ile618SerVAR_054906rs281875276
27F11p.Gly32ArgVAR_067929rs281875259
28F11p.Ala43ThrVAR_067930rs281875264
29F11p.Thr51IleVAR_067931rs281875252
30F11p.Thr51ProVAR_067932rs281875243
31F11p.His53GlnVAR_067933rs281875261
32F11p.Ala63ValVAR_067934rs281875244
33F11p.Cys140TyrVAR_067935rs281875256
34F11p.Asp222TyrVAR_067936rs281875245
35F11p.Arg228GlnVAR_067937rs281875246
36F11p.Phe241LeuVAR_067938rs281875265
37F11p.Arg252ThrVAR_067939rs281875260
38F11p.Ser276CysVAR_067940rs281875247
39F11p.Gly277AspVAR_067941rs281875248
40F11p.Glu315LysVAR_067942rs281875257
41F11p.Thr331IleVAR_067943rs281875253
42F11p.Leu360ProVAR_067944rs281875254
43F11p.Trp401ArgVAR_067945rs281875262
44F11p.Val403MetVAR_067946rs281875266
45F11p.Ile454LysVAR_067947rs281875241
46F11p.Ile481SerVAR_067948rs281875242
47F11p.Ser503ProVAR_067949rs140068026
48F11p.Asp506GlyVAR_067950rs281875258
49F11p.Cys514PheVAR_067951rs281875249
50F11p.Asp526GluVAR_067952rs281875263
51F11p.Ser575LeuVAR_067953rs281875250
52F11p.Glu597LysVAR_067954rs281875251
53F11p.Tyr608HisVAR_067955rs281875255

Clinvar genetic disease variations for Factor Xi Deficiency, Autosomal Recessive:

6 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1F11F11, IVS14DS, G-A, +1single nucleotide variantPathogenic
2F11NM_000128.3(F11): c.403G> T (p.Glu135Ter)single nucleotide variantPathogenicrs121965063GRCh37Chr 4, 187195347: 187195347
3F11NM_000128.3(F11): c.901T> C (p.Phe301Leu)single nucleotide variantPathogenicrs121965064GRCh37Chr 4, 187201412: 187201412
4F11F11, IVS9AS, A-G, -2single nucleotide variantPathogenic
5F11F11, IVS5DS, G-C, +5single nucleotide variantPathogenic
6F11NM_000128.3(F11): c.1378T> G (p.Phe460Val)single nucleotide variantPathogenicrs121965065GRCh37Chr 4, 187206865: 187206865
7F11NM_000128.3(F11): c.438C> A (p.Cys146Ter)single nucleotide variantPathogenicrs121965066GRCh37Chr 4, 187195382: 187195382
8F11NM_000128.3(F11): c.1211C> A (p.Thr404Asn)single nucleotide variantPathogenicrs121965067GRCh37Chr 4, 187205321: 187205321
9F11NM_000128.3(F11): c.976C> T (p.Arg326Cys)single nucleotide variantPathogenicrs28934608GRCh37Chr 4, 187201487: 187201487
10F11NM_000128.3(F11): c.1289C> T (p.Ala430Val)single nucleotide variantPathogenicrs121965068GRCh37Chr 4, 187205399: 187205399
11NM_000128.3(F11): c.1782C> A (p.Ser594Arg)single nucleotide variantPathogenicrs28934609GRCh37Chr 4, 187209672: 187209672
12F11NM_000128.3(F11): c.166T> C (p.Cys56Arg)single nucleotide variantPathogenicrs121965069GRCh37Chr 4, 187192873: 187192873
13F11NM_000128.3(F11): c.809A> T (p.Lys270Ile)single nucleotide variantPathogenicrs121965070GRCh37Chr 4, 187201219: 187201219
14F11NM_000128.3(F11): c.1253G> T (p.Gly418Val)single nucleotide variantPathogenicrs121965071GRCh37Chr 4, 187205363: 187205363
15NM_000128.3(F11): c.1760G> C (p.Trp587Ser)single nucleotide variantPathogenicrs121965072GRCh37Chr 4, 187209650: 187209650
16F11F11, DELdeletionPathogenic

Expression for genes affiliated with Factor Xi Deficiency, Autosomal Recessive

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Search GEO for disease gene expression data for Factor Xi Deficiency, Autosomal Recessive.

Pathways for genes affiliated with Factor Xi Deficiency, Autosomal Recessive

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Compounds for genes affiliated with Factor Xi Deficiency, Autosomal Recessive

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GO Terms for genes affiliated with Factor Xi Deficiency, Autosomal Recessive

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Products for genes affiliated with Factor Xi Deficiency, Autosomal Recessive

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  • Antibodies
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  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Factor Xi Deficiency, Autosomal Recessive

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet