MCID: ULN017
MIFTS: 28

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 52
Absence of Ulna and Fibula with Severe Limb Deficiency 48 24 70 27
Schinzel Phocomelia Syndrome 48 24 70
Limb/pelvis-Hypoplasia/aplasia Syndrome 24 70
Al-Awadi/raas-Rothschild Syndrome 24 70
Phocomelia, Schinzel Type 48 54
Lphas 48 70
Aarrs 48 70
Ulna and Fibula, Absence of, with Sever Limb Deficiency 12
 
Ulna and Fibula Absence of with Severe Limb Deficiency 48
Al-Awadi/raas-Rothschild/schinzel Phocomelia Syndrome 48
Limb/pelvis/uterus-Hypoplasia/aplasia Syndrome 70
Limb Pelvis Hypoplasia Aplasia Syndrome 70
Aplasia/hypoplasia of Limbs and Pelvis 54
Congenital Absence of Ulna and Fibula 54
Al Awadi Rass Rothschild Syndrome 48
Al Awadi-Raas-Rothschild Syndrome 54
Severe Limb Deficit 54

Characteristics:

Orphanet epidemiological data:

54
phocomelia, schinzel type:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age

HPO:

64
ulna and fibula, absence of, with severe limb deficiency:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 276820
Orphanet54 ORPHA2879
ICD10 via Orphanet31 Q87.2
MedGen37 C1848651
MeSH39 D004480

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

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OMIM:52 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:70 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
1phocomelia10.1
2polycystic ovary syndrome9.9
3fuhrmann syndrome9.8

Symptoms & Phenotypes 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

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

 64 54 (show all 85)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 split hand64 hallmark (90%) HP:0001171
2 hand oligodactyly64 hallmark (90%) HP:0001180
3 abnormality of the fingernails64 hallmark (90%) HP:0001231
4 short foot64 hallmark (90%) HP:0001773
5 split foot64 hallmark (90%) HP:0001839
6 foot oligodactyly64 hallmark (90%) HP:0001849
7 abnormality of pelvic girdle bone morphology64 hallmark (90%) HP:0002644
8 micromelia64 54 hallmark (90%) Very frequent (99-80%) HP:0002983
9 fibular aplasia64 54 hallmark (90%) Very frequent (99-80%) HP:0002990
10 abnormality of the fibula64 hallmark (90%) HP:0002991
11 abnormality of the tibia64 54 hallmark (90%) Very frequent (99-80%) HP:0002992
12 abnormality of the ulna64 hallmark (90%) HP:0002997
13 absent ulna64 54 hallmark (90%) Very frequent (99-80%) HP:0003982
14 short stature64 hallmark (90%) HP:0004322
15 aplasia/hypoplasia of the femur64 hallmark (90%) HP:0005613
16 bowing of the long bones64 54 hallmark (90%) Very frequent (99-80%) HP:0006487
17 aplasia/hypoplasia of metatarsal bones64 common (75%) HP:0001964
18 hypoplasia of the radius64 54 common (75%) Frequent (79-30%) HP:0002984
19 radial bowing64 54 common (75%) Frequent (79-30%) HP:0002986
20 elbow flexion contracture64 common (75%) HP:0002987
21 humeroradial synostosis64 54 common (75%) Occasional (29-5%) HP:0003041
22 elbow ankylosis64 common (75%) HP:0003070
23 disproportionate short stature64 54 common (75%) Very frequent (99-80%) HP:0003498
24 aplasia/hypoplasia involving the metacarpal bones64 common (75%) HP:0005914
25 aplasia/hypoplasia involving the carpal bones64 common (75%) HP:0006502
26 aplasia/hypoplasia of the tarsal bones64 common (75%) HP:0008363
27 aplasia/hypoplasia of the phalanges of the hand64 common (75%) HP:0009767
28 phocomelia64 common (75%) HP:0009829
29 aplasia/hypoplasia of the phalanges of the toes64 common (75%) HP:0010173
30 abnormality of female internal genitalia64 typical (50%) HP:0000008
31 micrognathia64 54 typical (50%) Frequent (79-30%) HP:0000347
32 short neck64 54 typical (50%) Frequent (79-30%) HP:0000470
33 intrauterine growth retardation64 54 typical (50%) Frequent (79-30%) HP:0001511
34 femoral bowing64 typical (50%) HP:0002980
35 aplasia/hypoplasia of the radius64 typical (50%) HP:0006501
36 aplasia/hypoplasia of the pubic bone64 typical (50%) HP:0009104
37 cryptorchidism64 54 occasional (7.5%) Occasional (29-5%) HP:0000028
38 cleft palate64 54 occasional (7.5%) Occasional (29-5%) HP:0000175
39 abnormality of the pinna64 occasional (7.5%) HP:0000377
40 calvarial skull defect64 occasional (7.5%) HP:0001362
41 hydrops fetalis64 54 occasional (7.5%) Occasional (29-5%) HP:0001789
42 talipes64 54 occasional (7.5%) Occasional (29-5%) HP:0001883
43 meningocele64 54 occasional (7.5%) Occasional (29-5%) HP:0002435
44 tracheoesophageal fistula64 54 occasional (7.5%) Occasional (29-5%) HP:0002575
45 hip dislocation64 occasional (7.5%) HP:0002827
46 abnormality of the humerus64 occasional (7.5%) HP:0003063
47 short nose64 54 occasional (7.5%) Occasional (29-5%) HP:0003196
48 hypoplasia of penis64 54 occasional (7.5%) Occasional (29-5%) HP:0008736
49 urogenital fistula64 occasional (7.5%) HP:0100589
50 aplasia of the uterus64 54 rare (5%) Frequent (79-30%) HP:0000151
51 occipital meningocele64 rare (5%) HP:0002436
52 anteriorly displaced genitalia64 4% HP:0003252
53 broad neck64 3% HP:0000475
54 broad ribs64 3% HP:0000885
55 broad clavicles64 3% HP:0000916
56 long face64 2% HP:0000276
57 prominent sternum64 2% HP:0000884
58 barrel-shaped chest64 2% HP:0001552
59 scrotal hypoplasia64 very rare (1%) HP:0000046
60 hypospadias64 HP:0000047
61 narrow palate64 HP:0000189
62 high palate64 HP:0000218
63 epicanthus64 HP:0000286
64 low-set ears64 HP:0000369
65 wide nasal bridge64 HP:0000431
66 pectus carinatum64 HP:0000768
67 anonychia64 HP:0001798
68 hypoplastic nipples64 HP:0002557
69 hemivertebrae64 HP:0002937
70 carpal bone aplasia64 HP:0004231
71 decreased calvarial ossification64 HP:0005474
72 congenital pseudoarthrosis of the clavicle64 HP:0006585
73 aplastic pubic bones64 HP:0008817
74 pilonidal sinus64 HP:0010769
75 long ear64 HP:0400004
76 protruding ear54 Occasional (29-5%)
77 oligodactyly (hands)54 Very frequent (99-80%)
78 skull defect54 Occasional (29-5%)
79 oligodactyly (feet)54 Very frequent (99-80%)
80 anal atresia54 Occasional (29-5%)
81 nail dysplasia54 Very frequent (99-80%)
82 high, narrow palate54 Occasional (29-5%)
83 aplasia/hypoplasia of the sacrum54 Very frequent (99-80%)
84 aplasia/hypoplasia involving the pelvis54 Very frequent (99-80%)
85 ectrodactyly54 Very frequent (99-80%)

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 Deficiency27
2 Absence of Ulna and Fibula with Severe Limb Deficiency24 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:

36
Bone, Uterus

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:

70
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)SNVPathogenicrs879255548GRCh37Chr 3, 13896295: 13896295
2WNT7ANM_004625.3(WNT7A): c.610G> A (p.Gly204Ser)SNVLikely pathogenic, Pathogenicrs387907231GRCh37Chr 3, 13860881: 13860881
3WNT7ANM_004625.3(WNT7A): c.664C> T (p.Arg222Trp)SNVPathogenicrs397514643GRCh37Chr 3, 13860827: 13860827
4WNT7ANM_004625.3(WNT7A): c.214G> A (p.Glu72Lys)SNVPathogenicrs397514666GRCh37Chr 3, 13916528: 13916528
5WNT7ANM_004625.3(WNT7A): c.874C> T (p.Arg292Cys)SNVPathogenicrs104893835GRCh37Chr 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet