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

About this section

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

Name: Ulna and Fibula, Absence of, with Severe Limb Deficiency 51
Absence of Ulna and Fibula with Severe Limb Deficiency 47 24 69 26
Schinzel Phocomelia Syndrome 47 24 69
Limb/pelvis-Hypoplasia/aplasia Syndrome 24 69
Al-Awadi/raas-Rothschild Syndrome 24 69
Phocomelia, Schinzel Type 47 53
Lphas 47 69
Aarrs 47 69
Ulna and Fibula, Absence of, with Sever Limb Deficiency 12
 
Ulna and Fibula Absence of with Severe Limb Deficiency 47
Al-Awadi/raas-Rothschild/schinzel Phocomelia Syndrome 47
Limb/pelvis/uterus-Hypoplasia/aplasia Syndrome 69
Limb Pelvis Hypoplasia Aplasia Syndrome 69
Aplasia/hypoplasia of Limbs and Pelvis 53
Congenital Absence of Ulna and Fibula 53
Al Awadi Rass Rothschild Syndrome 47
Al Awadi-Raas-Rothschild Syndrome 53
Severe Limb Deficit 53

Characteristics:

Orphanet epidemiological data:

53
phocomelia, schinzel type:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age

HPO:

63
ulna and fibula, absence of, with severe limb deficiency:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 276820
Orphanet53 ORPHA2879
ICD10 via Orphanet30 Q87.2
MedGen36 C1848651
MeSH38 D004480

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

About this section
OMIM:51 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:69 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

About this section

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

About this section

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:

 63 53 (show all 85)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 split hand63 hallmark (90%) HP:0001171
2 hand oligodactyly63 hallmark (90%) HP:0001180
3 abnormality of the fingernails63 hallmark (90%) HP:0001231
4 short foot63 hallmark (90%) HP:0001773
5 split foot63 hallmark (90%) HP:0001839
6 foot oligodactyly63 hallmark (90%) HP:0001849
7 abnormality of pelvic girdle bone morphology63 hallmark (90%) HP:0002644
8 micromelia63 53 hallmark (90%) Very frequent (99-80%) HP:0002983
9 fibular aplasia63 53 hallmark (90%) Very frequent (99-80%) HP:0002990
10 abnormality of the fibula63 hallmark (90%) HP:0002991
11 abnormality of the tibia63 53 hallmark (90%) Very frequent (99-80%) HP:0002992
12 abnormality of the ulna63 hallmark (90%) HP:0002997
13 absent ulna63 53 hallmark (90%) Very frequent (99-80%) HP:0003982
14 short stature63 hallmark (90%) HP:0004322
15 aplasia/hypoplasia of the femur63 hallmark (90%) HP:0005613
16 bowing of the long bones63 53 hallmark (90%) Very frequent (99-80%) HP:0006487
17 aplasia/hypoplasia of metatarsal bones63 common (75%) HP:0001964
18 hypoplasia of the radius63 53 common (75%) Frequent (79-30%) HP:0002984
19 radial bowing63 53 common (75%) Frequent (79-30%) HP:0002986
20 elbow flexion contracture63 common (75%) HP:0002987
21 humeroradial synostosis63 53 common (75%) Occasional (29-5%) HP:0003041
22 elbow ankylosis63 common (75%) HP:0003070
23 disproportionate short stature63 53 common (75%) Very frequent (99-80%) HP:0003498
24 aplasia/hypoplasia involving the metacarpal bones63 common (75%) HP:0005914
25 aplasia/hypoplasia involving the carpal bones63 common (75%) HP:0006502
26 aplasia/hypoplasia of the tarsal bones63 common (75%) HP:0008363
27 aplasia/hypoplasia of the phalanges of the hand63 common (75%) HP:0009767
28 phocomelia63 common (75%) HP:0009829
29 aplasia/hypoplasia of the phalanges of the toes63 common (75%) HP:0010173
30 abnormality of female internal genitalia63 typical (50%) HP:0000008
31 micrognathia63 53 typical (50%) Frequent (79-30%) HP:0000347
32 short neck63 53 typical (50%) Frequent (79-30%) HP:0000470
33 intrauterine growth retardation63 53 typical (50%) Frequent (79-30%) HP:0001511
34 femoral bowing63 typical (50%) HP:0002980
35 aplasia/hypoplasia of the radius63 typical (50%) HP:0006501
36 aplasia/hypoplasia of the pubic bone63 typical (50%) HP:0009104
37 cryptorchidism63 53 occasional (7.5%) Occasional (29-5%) HP:0000028
38 cleft palate63 53 occasional (7.5%) Occasional (29-5%) HP:0000175
39 abnormality of the pinna63 occasional (7.5%) HP:0000377
40 calvarial skull defect63 occasional (7.5%) HP:0001362
41 hydrops fetalis63 53 occasional (7.5%) Occasional (29-5%) HP:0001789
42 talipes63 53 occasional (7.5%) Occasional (29-5%) HP:0001883
43 meningocele63 53 occasional (7.5%) Occasional (29-5%) HP:0002435
44 tracheoesophageal fistula63 53 occasional (7.5%) Occasional (29-5%) HP:0002575
45 hip dislocation63 occasional (7.5%) HP:0002827
46 abnormality of the humerus63 occasional (7.5%) HP:0003063
47 short nose63 53 occasional (7.5%) Occasional (29-5%) HP:0003196
48 hypoplasia of penis63 53 occasional (7.5%) Occasional (29-5%) HP:0008736
49 urogenital fistula63 occasional (7.5%) HP:0100589
50 aplasia of the uterus63 53 rare (5%) Frequent (79-30%) HP:0000151
51 occipital meningocele63 rare (5%) HP:0002436
52 anteriorly displaced genitalia63 4% HP:0003252
53 broad neck63 3% HP:0000475
54 broad ribs63 3% HP:0000885
55 broad clavicles63 3% HP:0000916
56 long face63 2% HP:0000276
57 prominent sternum63 2% HP:0000884
58 barrel-shaped chest63 2% HP:0001552
59 scrotal hypoplasia63 very rare (1%) HP:0000046
60 hypospadias63 HP:0000047
61 narrow palate63 HP:0000189
62 high palate63 HP:0000218
63 epicanthus63 HP:0000286
64 low-set ears63 HP:0000369
65 wide nasal bridge63 HP:0000431
66 pectus carinatum63 HP:0000768
67 anonychia63 HP:0001798
68 hypoplastic nipples63 HP:0002557
69 hemivertebrae63 HP:0002937
70 carpal bone aplasia63 HP:0004231
71 decreased calvarial ossification63 HP:0005474
72 congenital pseudoarthrosis of the clavicle63 HP:0006585
73 aplastic pubic bones63 HP:0008817
74 pilonidal sinus63 HP:0010769
75 long ear63 HP:0400004
76 protruding ear53 Occasional (29-5%)
77 oligodactyly (hands)53 Very frequent (99-80%)
78 skull defect53 Occasional (29-5%)
79 oligodactyly (feet)53 Very frequent (99-80%)
80 anal atresia53 Occasional (29-5%)
81 nail dysplasia53 Very frequent (99-80%)
82 high, narrow palate53 Occasional (29-5%)
83 aplasia/hypoplasia of the sacrum53 Very frequent (99-80%)
84 aplasia/hypoplasia involving the pelvis53 Very frequent (99-80%)
85 ectrodactyly53 Very frequent (99-80%)

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

About this section

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

About this section

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 Deficiency26
2 Absence of Ulna and Fibula with Severe Limb Deficiency24 WNT7A

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

About this section

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

35
Bone, Uterus

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

About this section

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

About this section

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

About this section

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

69
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

About this section
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

About this section

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

About this section

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

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet