LPHAS
MCID: ULN017
MIFTS: 28

Ulna and Fibula, Absence of, with Severe Limb Deficiency (LPHAS) malady

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

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

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

Name: Ulna and Fibula, Absence of, with Severe Limb Deficiency 54
Absence of Ulna and Fibula with Severe Limb Deficiency 50 24 66 29
Schinzel Phocomelia Syndrome 50 24 66
Limb/pelvis-Hypoplasia/aplasia Syndrome 24 66
Al-Awadi/raas-Rothschild Syndrome 24 66
Phocomelia, Schinzel Type 50 56
Aarrs 50 66
Lphas 50 66
Ulna and Fibula, Absence of, with Sever Limb Deficiency 13
Ulna and Fibula Absence of with Severe Limb Deficiency 50
Al-Awadi/raas-Rothschild/schinzel Phocomelia Syndrome 50
Limb/pelvis/uterus-Hypoplasia/aplasia Syndrome 66
Limb Pelvis Hypoplasia Aplasia Syndrome 66
Aplasia/hypoplasia of Limbs and Pelvis 56
Congenital Absence of Ulna and Fibula 56
Al Awadi Rass Rothschild Syndrome 50
Al Awadi-Raas-Rothschild Syndrome 56
Severe Limb Deficit 56

Characteristics:

Orphanet epidemiological data:

56
phocomelia, schinzel type
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age;

HPO:

32
ulna and fibula, absence of, with severe limb deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 276820
Orphanet 56 ORPHA2879
ICD10 via Orphanet 34 Q87.2
MedGen 40 C1848651
MeSH 42 D004480

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

OMIM : 54 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 short neck, short nose and cleft palate. 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 : 66 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

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

id Related Disease Score Top Affiliating Genes
1 phocomelia 10.1
2 polycystic ovary syndrome 9.9
3 fuhrmann syndrome 9.8

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

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:

56 32 (show top 50) (show all 74)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 56 32 Frequent (79-30%) HP:0000470
2 short nose 56 32 Occasional (29-5%) HP:0003196
3 cleft palate 56 32 Occasional (29-5%) HP:0000175
4 micrognathia 56 32 Frequent (79-30%) HP:0000347
5 micromelia 56 32 Very frequent (99-80%) HP:0002983
6 cryptorchidism 56 32 Occasional (29-5%) HP:0000028
7 hydrops fetalis 56 32 Occasional (29-5%) HP:0001789
8 high, narrow palate 56 32 Occasional (29-5%) HP:0002705
9 protruding ear 56 32 Occasional (29-5%) HP:0000411
10 intrauterine growth retardation 56 32 Frequent (79-30%) HP:0001511
11 meningocele 56 32 Occasional (29-5%) HP:0002435
12 anal atresia 56 32 Occasional (29-5%) HP:0002023
13 hypoplasia of penis 56 32 Occasional (29-5%) HP:0008736
14 tracheoesophageal fistula 56 32 Occasional (29-5%) HP:0002575
15 talipes 56 32 Occasional (29-5%) HP:0001883
16 nail dysplasia 56 32 Very frequent (99-80%) HP:0002164
17 ectrodactyly 56 32 Very frequent (99-80%) HP:0100257
18 hypoplasia of the radius 56 32 Frequent (79-30%) HP:0002984
19 aplasia of the uterus 56 32 Frequent (79-30%) HP:0000151
20 abnormality of the tibia 56 32 Very frequent (99-80%) HP:0002992
21 disproportionate short stature 56 32 Very frequent (99-80%) HP:0003498
22 fibular aplasia 56 32 Very frequent (99-80%) HP:0002990
23 aplasia/hypoplasia of the sacrum 56 32 Very frequent (99-80%) HP:0008517
24 radial bowing 56 32 Frequent (79-30%) HP:0002986
25 absent ulna 56 32 Very frequent (99-80%) HP:0003982
26 humeroradial synostosis 56 32 Occasional (29-5%) HP:0003041
27 aplasia/hypoplasia involving the pelvis 56 32 Very frequent (99-80%) HP:0009103
28 low-set ears 32 HP:0000369
29 high palate 32 HP:0000218
30 narrow palate 32 HP:0000189
31 bowing of the long bones 56 Very frequent (99-80%)
32 wide nasal bridge 32 HP:0000431
33 pectus carinatum 32 HP:0000768
34 broad ribs 32 HP:0000885
35 epicanthus 32 HP:0000286
36 short foot 32 HP:0001773
37 hip dislocation 32 HP:0002827
38 hypospadias 32 HP:0000047
39 anonychia 32 HP:0001798
40 long face 32 HP:0000276
41 split hand 32 HP:0001171
42 hemivertebrae 32 HP:0002937
43 scrotal hypoplasia 32 HP:0000046
44 hypoplastic nipples 32 HP:0002557
45 skull defect 56 Occasional (29-5%)
46 decreased calvarial ossification 32 HP:0005474
47 phocomelia 32 HP:0009829
48 oligodactyly (hands) 56 Very frequent (99-80%)
49 aplasia/hypoplasia involving the metacarpal bones 32 HP:0005914
50 femoral bowing 32 HP:0002980

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

Search Clinical Trials , 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

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 Deficiency 29
2 Absence of Ulna and Fibula with Severe Limb Deficiency 24 WNT7A

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

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

39
Bone, Uterus

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

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

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

66
id Symbol AA change Variation ID SNP ID
1 WNT7A p.Arg292Cys VAR_030674 rs104893835
2 WNT7A p.Arg222Trp VAR_064480 rs397514643
3 WNT7A p.Glu72Lys VAR_065765 rs397514666

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 WNT7A NM_004625.3(WNT7A): c.874C> T (p.Arg292Cys) single nucleotide variant Pathogenic rs104893835 GRCh37 Chromosome 3, 13860617: 13860617
2 WNT7A NM_004625.3(WNT7A): c.610G> A (p.Gly204Ser) single nucleotide variant Pathogenic/Likely pathogenic rs387907231 GRCh37 Chromosome 3, 13860881: 13860881
3 WNT7A NM_004625.3(WNT7A): c.664C> T (p.Arg222Trp) single nucleotide variant Pathogenic rs397514643 GRCh37 Chromosome 3, 13860827: 13860827
4 WNT7A NM_004625.3(WNT7A): c.214G> A (p.Glu72Lys) single nucleotide variant Pathogenic rs397514666 GRCh37 Chromosome 3, 13916528: 13916528
5 WNT7A NM_004625.3(WNT7A): c.304C> T (p.Arg102Trp) single nucleotide variant Pathogenic rs879255548 GRCh37 Chromosome 3, 13896295: 13896295

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

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

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

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....