MCID: ULN017
MIFTS: 29

Ulna and Fibula, Absence of, with Severe Limb Deficiency malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Ulna and Fibula, Absence of, with Severe Limb Deficiency

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Aliases & Descriptions for Ulna and Fibula, Absence of, with Severe Limb Deficiency:

Name: Ulna and Fibula, Absence of, with Severe Limb Deficiency 50
Absence of Ulna and Fibula with Severe Limb Deficiency 46 23 68 25
Schinzel Phocomelia Syndrome 46 23 68
Limb/pelvis-Hypoplasia/aplasia Syndrome 23 68
Al-Awadi/raas-Rothschild Syndrome 23 68
Phocomelia, Schinzel Type 46 52
Lphas 46 68
Aarrs 46 68
Ulna and Fibula, Absence of, with Sever Limb Deficiency 12
 
Ulna and Fibula Absence of with Severe Limb Deficiency 46
Al-Awadi/raas-Rothschild/schinzel Phocomelia Syndrome 46
Limb/pelvis/uterus-Hypoplasia/aplasia Syndrome 68
Limb Pelvis Hypoplasia Aplasia Syndrome 68
Aplasia/hypoplasia of Limbs and Pelvis 52
Congenital Absence of Ulna and Fibula 52
Al Awadi Rass Rothschild Syndrome 46
Al Awadi-Raas-Rothschild Syndrome 52
Severe Limb Deficit 52

Characteristics:

Orphanet epidemiological data:

52
phocomelia, schinzel type:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age

HPO:

62
ulna and fibula, absence of, with severe limb deficiency:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 276820
Orphanet52 ORPHA2879
ICD10 via Orphanet29 Q87.2
MedGen35 C1848651
MeSH37 D004480

Summaries for Ulna and Fibula, Absence of, with Severe Limb Deficiency

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OMIM:50 The Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome (AARRS) is a rare autosomal recessive disorder characterized... (276820) more...

MalaCards based summary: Ulna and Fibula, Absence of, with Severe Limb Deficiency, also known as absence of ulna and fibula with severe limb deficiency, is related to phocomelia and polycystic ovary syndrome, and has symptoms including split hand, hand oligodactyly and abnormality of the fingernails. An important gene associated with Ulna and Fibula, Absence of, with Severe Limb Deficiency is WNT7A (Wnt Family Member 7A). Affiliated tissues include bone and uterus.

UniProtKB/Swiss-Prot:68 Limb pelvis hypoplasia aplasia syndrome: A syndrome of severe deficiency of the extremities due to hypo- or aplasia of one or more long bones of one or more limbs. Pelvic manifestations include hip dislocation, hypoplastic iliac bone and aplastic pubic bones. Thoracic deformity, unusual facies and genitourinary anomalies can be present.

Related Diseases for Ulna and Fibula, Absence of, with Severe Limb Deficiency

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Diseases related to Ulna and Fibula, Absence of, with Severe Limb Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1phocomelia10.2
2polycystic ovary syndrome10.0
3fuhrmann syndrome10.0

Symptoms for Ulna and Fibula, Absence of, with Severe Limb Deficiency

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Symptoms by clinical synopsis from OMIM:

276820

Clinical features from OMIM:

276820

Symptoms:

 52 (show all 31)
  • cryptorchidism
  • aplasia of the uterus
  • cleft palate
  • micrognathia
  • protruding ear
  • short neck
  • oligodactyly (hands)
  • skull defect
  • intrauterine growth retardation
  • hydrops fetalis
  • oligodactyly (feet)
  • talipes
  • anal atresia
  • nail dysplasia
  • meningocele
  • tracheoesophageal fistula
  • high, narrow palate
  • micromelia
  • hypoplasia of the radius
  • radial bowing
  • fibular aplasia
  • abnormality of the tibia
  • humeroradial synostosis
  • short nose
  • disproportionate short stature
  • absent ulna
  • bowing of the long bones
  • aplasia/hypoplasia of the sacrum
  • hypoplasia of penis
  • aplasia/hypoplasia involving the pelvis
  • ectrodactyly

HPO human phenotypes related to Ulna and Fibula, Absence of, with Severe Limb Deficiency:

(show all 78)
id Description Frequency HPO Source Accession
1 split hand hallmark (90%) HP:0001171
2 hand oligodactyly hallmark (90%) HP:0001180
3 abnormality of the fingernails hallmark (90%) HP:0001231
4 short foot hallmark (90%) HP:0001773
5 split foot hallmark (90%) HP:0001839
6 foot oligodactyly hallmark (90%) HP:0001849
7 abnormality of pelvic girdle bone morphology hallmark (90%) HP:0002644
8 micromelia hallmark (90%) HP:0002983
9 fibular aplasia hallmark (90%) HP:0002990
10 abnormality of the fibula hallmark (90%) HP:0002991
11 abnormality of the tibia hallmark (90%) HP:0002992
12 abnormality of the ulna hallmark (90%) HP:0002997
13 absent ulna hallmark (90%) HP:0003982
14 short stature hallmark (90%) HP:0004322
15 aplasia/hypoplasia of the femur hallmark (90%) HP:0005613
16 bowing of the long bones hallmark (90%) HP:0006487
17 aplasia/hypoplasia of metatarsal bones common (75%) HP:0001964
18 hypoplasia of the radius common (75%) HP:0002984
19 radial bowing common (75%) HP:0002986
20 elbow flexion contracture common (75%) HP:0002987
21 humeroradial synostosis common (75%) HP:0003041
22 elbow ankylosis common (75%) HP:0003070
23 disproportionate short stature common (75%) HP:0003498
24 aplasia/hypoplasia involving the metacarpal bones common (75%) HP:0005914
25 aplasia/hypoplasia involving the carpal bones common (75%) HP:0006502
26 aplasia/hypoplasia of the tarsal bones common (75%) HP:0008363
27 aplasia/hypoplasia of the phalanges of the hand common (75%) HP:0009767
28 phocomelia common (75%) HP:0009829
29 aplasia/hypoplasia of the phalanges of the toes common (75%) HP:0010173
30 abnormality of female internal genitalia typical (50%) HP:0000008
31 micrognathia typical (50%) HP:0000347
32 short neck typical (50%) HP:0000470
33 intrauterine growth retardation typical (50%) HP:0001511
34 femoral bowing typical (50%) HP:0002980
35 aplasia/hypoplasia of the radius typical (50%) HP:0006501
36 aplasia/hypoplasia of the pubic bone typical (50%) HP:0009104
37 split hand frequent (33%) HP:0001171
38 cryptorchidism occasional (7.5%) HP:0000028
39 cleft palate occasional (7.5%) HP:0000175
40 abnormality of the pinna occasional (7.5%) HP:0000377
41 calvarial skull defect occasional (7.5%) HP:0001362
42 hydrops fetalis occasional (7.5%) HP:0001789
43 talipes occasional (7.5%) HP:0001883
44 meningocele occasional (7.5%) HP:0002435
45 tracheoesophageal fistula occasional (7.5%) HP:0002575
46 hip dislocation occasional (7.5%) HP:0002827
47 abnormality of the humerus occasional (7.5%) HP:0003063
48 short nose occasional (7.5%) HP:0003196
49 hypoplasia of penis occasional (7.5%) HP:0008736
50 urogenital fistula occasional (7.5%) HP:0100589
51 aplasia of the uterus rare (5%) HP:0000151
52 occipital meningocele rare (5%) HP:0002436
53 anteriorly displaced genitalia 4% HP:0003252
54 broad neck 3% HP:0000475
55 broad ribs 3% HP:0000885
56 broad clavicles 3% HP:0000916
57 cryptorchidism 2% HP:0000028
58 long face 2% HP:0000276
59 prominent sternum 2% HP:0000884
60 barrel-shaped chest 2% HP:0001552
61 scrotal hypoplasia very rare (1%) HP:0000046
62 hypospadias HP:0000047
63 narrow palate HP:0000189
64 high palate HP:0000218
65 epicanthus HP:0000286
66 low-set ears HP:0000369
67 wide nasal bridge HP:0000431
68 short neck HP:0000470
69 pectus carinatum HP:0000768
70 anonychia HP:0001798
71 hypoplastic nipples HP:0002557
72 hemivertebrae HP:0002937
73 carpal bone aplasia HP:0004231
74 decreased calvarial ossification HP:0005474
75 congenital pseudoarthrosis of the clavicle HP:0006585
76 aplastic pubic bones HP:0008817
77 pilonidal sinus HP:0010769
78 long ear HP:0400004

Drugs & Therapeutics for Ulna and Fibula, Absence of, with Severe Limb Deficiency

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Ulna and Fibula, Absence of, with Severe Limb Deficiency

Genetic Tests for Ulna and Fibula, Absence of, with Severe Limb Deficiency

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Genetic tests related to Ulna and Fibula, Absence of, with Severe Limb Deficiency:

id Genetic test Affiliating Genes
1 Ulna and Fibula Absence of with Severe Limb Deficiency25
2 Absence of Ulna and Fibula with Severe Limb Deficiency23 WNT7A

Anatomical Context for Ulna and Fibula, Absence of, with Severe Limb Deficiency

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MalaCards organs/tissues related to Ulna and Fibula, Absence of, with Severe Limb Deficiency:

34
Bone, Uterus

Animal Models for Ulna and Fibula, Absence of, with Severe Limb Deficiency or affiliated genes

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Publications for Ulna and Fibula, Absence of, with Severe Limb Deficiency

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Variations for Ulna and Fibula, Absence of, with Severe Limb Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for Ulna and Fibula, Absence of, with Severe Limb Deficiency:

68
id Symbol AA change Variation ID SNP ID
1WNT7Ap.Arg292CysVAR_030674rs104893835
2WNT7Ap.Arg222TrpVAR_064480rs397514643
3WNT7Ap.Glu72LysVAR_065765rs397514666

Clinvar genetic disease variations for Ulna and Fibula, Absence of, with Severe Limb Deficiency:

5
id Gene Variation Type Significance SNP ID Assembly Location
1WNT7ANM_004625.3(WNT7A): c.304C> T (p.Arg102Trp)single nucleotide variantPathogenicrs879255548GRCh37Chr 3, 13896295: 13896295
2WNT7ANM_004625.3(WNT7A): c.610G> A (p.Gly204Ser)single nucleotide variantPathogenicrs387907231GRCh37Chr 3, 13860881: 13860881
3WNT7ANM_004625.3(WNT7A): c.664C> T (p.Arg222Trp)single nucleotide variantPathogenicrs397514643GRCh37Chr 3, 13860827: 13860827
4WNT7ANM_004625.3(WNT7A): c.214G> A (p.Glu72Lys)single nucleotide variantPathogenicrs397514666GRCh37Chr 3, 13916528: 13916528
5WNT7ANM_004625.3(WNT7A): c.874C> T (p.Arg292Cys)single nucleotide variantPathogenicrs104893835GRCh37Chr 3, 13860617: 13860617

Expression for genes affiliated with Ulna and Fibula, Absence of, with Severe Limb Deficiency

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Search GEO for disease gene expression data for Ulna and Fibula, Absence of, with Severe Limb Deficiency.

Pathways for genes affiliated with Ulna and Fibula, Absence of, with Severe Limb Deficiency

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GO Terms for genes affiliated with Ulna and Fibula, Absence of, with Severe Limb Deficiency

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Sources for Ulna and Fibula, Absence of, with Severe Limb Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet