LPHAS
MCID: ULN017
MIFTS: 34

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

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

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

MalaCards integrated aliases for Ulna and Fibula, Absence of, with Severe Limb Deficiency:

Name: Ulna and Fibula, Absence of, with Severe Limb Deficiency 57 40
Ulna and Fibula Absence of with Severe Limb Deficiency 53 29 6
Al-Awadi/raas-Rothschild Syndrome 57 75 37
Schinzel Phocomelia Syndrome 57 53 75
Aarrs 57 53 75
Absence of Ulna and Fibula with Severe Limb Deficiency 53 75
Limb/pelvis-Hypoplasia/aplasia Syndrome 57 75
Phocomelia, Schinzel Type 53 59
Lphas 57 75
Ulna and Fibula, Absence of, with Sever Limb Deficiency 13
Al-Awadi/raas-Rothschild/schinzel Phocomelia Syndrome 53
Limb/pelvis-Hypoplasia/aplasia Syndrome; Lphas 57
Limb/pelvis/uterus-Hypoplasia/aplasia Syndrome 75
Al-Awadi/raas-Rothschild Syndrome; Aarrs 57
Limb Pelvis Hypoplasia Aplasia Syndrome 75
Aplasia/hypoplasia of Limbs and Pelvis 59
Congenital Absence of Ulna and Fibula 59
Al-Awadi-Raas-Rothschild Syndrome 53
Al Awadi-Raas-Rothschild Syndrome 59
Severe Limb Deficit 59

Characteristics:

Orphanet epidemiological data:

59
phocomelia, schinzel type
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
allelic to fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly (fuhrmann syndrome, )


HPO:

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


Classifications:



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

NIH Rare Diseases : 53 Al-Awadi-Raas-Rothschild (AARR) syndrome is a very rare genetic syndrome characterized by skeletal abnormalities. It is a type of skeletal dysplasia. Signs and symptoms of AARR syndrome are present from birth and may include having no fibula (lower bone of the leg) or ulna (bone of the arm), having an underdeveloped (hypoplastic) pelvis, and having differences in the sex structures (genitalia). Females with this syndrome may have an absent uterus, and males may have undescended testes (cryptorchidism). Al-Awadi-Raas-Rothschild syndrome is caused by mutations (changes) to the WNT7A gene and is inherited in an autosomal recessive manner. Diagnosis of the syndrome can be made when a doctor observes signs and symptoms consistent with the syndrome. The diagnosis can be confirmed by genetic testing. Treatment for Al-Awadi-Raas-Rothschild syndrome depends on the specific symptoms of each affected person, but may include surgical options. Al-Awadi-Raas-Rothschild syndrome is very similar to another syndrome known as Fuhrmann syndrome. The symptoms associated with Fuhrmann syndrome tend to be more mild than those associated with Al-Awadi-Raas-Rothschild syndrome.

MalaCards based summary : Ulna and Fibula, Absence of, with Severe Limb Deficiency, also known as ulna and fibula absence of with severe limb deficiency, is related to fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly and phocomelia. An important gene associated with Ulna and Fibula, Absence of, with Severe Limb Deficiency is WNT7A (Wnt Family Member 7A). Affiliated tissues include bone, uterus and testes, and related phenotypes are short neck and short nose

OMIM : 57 The Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome (AARRS) is a rare autosomal recessive disorder characterized by severe malformations of upper and lower limbs with severely hypoplastic pelvis and abnormal genitalia. The disorder is believed to represent a defect of dorsoventral patterning and outgrowth of limbs (summary by Kantaputra et al., 2010). (276820)

UniProtKB/Swiss-Prot : 75 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:

# Related Disease Score Top Affiliating Genes
1 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly 10.7
2 phocomelia 10.7
3 split-hand/foot malformation 1 10.2
4 isolated split hand-split foot malformation 10.2
5 alzheimer disease 10.1
6 polycystic ovary syndrome 10.1

Graphical network of the top 20 diseases related to Ulna and Fibula, Absence of, with Severe Limb Deficiency:



Diseases related to Ulna and Fibula, Absence of, with Severe Limb Deficiency

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
dysplastic ears
long ears

Head And Neck Mouth:
high palate
narrow palate

Genitourinary Internal Genitalia Male:
cryptorchidism

Genitourinary External Genitalia Male:
hypospadias
hypoplastic scrotum
anteriorly displaced genitalia

Head And Neck Face:
long face
asymmetric face

Chest Breasts:
hypoplastic nipples

Skeletal Feet:
oligodactyly
aplastic/hypoplastic phalanges
aplastic/hypoplastic metatarsals
aplastic/hypoplastic tarsals
hypoplastic feet

Skeletal Limbs:
humeroradial synostosis
elbow flexion contractures
shortened forearm
short, bowed radii
aplastic ulnae
more
Head And Neck Eyes:
epicanthal folds

Skin Nails Hair Skin:
pilonidal sinus

Neurologic Central Nervous System:
occipital meningocele

Skeletal Skull:
poorly ossified calvarium

Head And Neck Neck:
short neck
broad neck

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
broad ribs
broad clavicles
prominent sternum
pseudoarthrosis of clavicle

Skeletal Pelvis:
hip dislocation
hypoplastic iliac bone
aplastic pubic bones

Skin Nails Hair Nails:
anonychia

Skeletal Spine:
hemivertebrae

Skeletal Hands:
oligodactyly
ectrodactyly
aplastic/hypoplastic phalanges
aplastic carpal bone
mobile wrist
more
Chest External Features:
barrel-shaped chest

Head And Neck Nose:
broad nasal bridge

Growth Height:
short stature, disproportionate

Genitourinary Internal Genitalia Female:
absent uterus

Genitourinary External Genitalia Female:
anteriorly displaced genitalia


Clinical features from OMIM:

276820

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

59 32 (show top 50) (show all 74)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
2 short nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0003196
3 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
4 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
5 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
6 cryptorchidism 59 32 very rare (1%) Occasional (29-5%) HP:0000028
7 hydrops fetalis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001789
8 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
9 high, narrow palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0002705
10 protruding ear 59 32 occasional (7.5%) Occasional (29-5%) HP:0000411
11 meningocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002435
12 anal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002023
13 hypoplasia of penis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008736
14 tracheoesophageal fistula 59 32 occasional (7.5%) Occasional (29-5%) HP:0002575
15 nail dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002164
16 aplasia/hypoplasia involving the pelvis 59 32 hallmark (90%) Very frequent (99-80%) HP:0009103
17 talipes 59 32 occasional (7.5%) Occasional (29-5%) HP:0001883
18 ectrodactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0100257
19 hypoplasia of the radius 59 32 frequent (33%) Frequent (79-30%) HP:0002984
20 aplasia of the uterus 59 32 occasional (7.5%) Frequent (79-30%) HP:0000151
21 abnormality of tibia morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0002992
22 disproportionate short stature 59 32 frequent (33%) Very frequent (99-80%) HP:0003498
23 fibular aplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002990
24 radial bowing 59 32 frequent (33%) Frequent (79-30%) HP:0002986
25 aplasia/hypoplasia of the sacrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0008517
26 foot oligodactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001849
27 humeroradial synostosis 59 32 frequent (33%) Occasional (29-5%) HP:0003041
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 59 Very frequent (99-80%)
32 wide nasal bridge 32 HP:0000431
33 pectus carinatum 32 HP:0000768
34 broad ribs 32 very rare (1%) HP:0000885
35 epicanthus 32 HP:0000286
36 short foot 32 hallmark (90%) HP:0001773
37 broad neck 32 very rare (1%) HP:0000475
38 elbow flexion contracture 32 frequent (33%) HP:0002987
39 hip dislocation 32 occasional (7.5%) HP:0002827
40 hypospadias 32 HP:0000047
41 anonychia 32 HP:0001798
42 long face 32 very rare (1%) HP:0000276
43 split hand 32 frequent (33%) HP:0001171
44 hemivertebrae 32 HP:0002937
45 scrotal hypoplasia 32 very rare (1%) HP:0000046
46 hypoplastic nipples 32 HP:0002557
47 skull defect 59 Occasional (29-5%)
48 decreased calvarial ossification 32 HP:0005474
49 phocomelia 32 frequent (33%) HP:0009829
50 oligodactyly (hands) 59 Very frequent (99-80%)

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:

# Genetic test Affiliating Genes
1 Ulna and Fibula Absence of with Severe Limb Deficiency 29 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:

41
Bone, Uterus, Testes, Ovary

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

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

# Title Authors Year
1
Al-Awadi-Raas-Rothschild syndrome with dental anomalies and a novel WNT7A mutation. ( 28917830 )
2017
2
A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas- Rothschild syndrome in a fetus. ( 27638328 )
2016
3
A case of severe proximal focal femoral deficiency with overlapping phenotypes of Al-Awadi-Raas-Rothschild syndrome and Fuhrmann syndrome. ( 24839142 )
2014
4
A report of two cases of Al-Awadi Raas-Rothschild syndrome (AARRS) supporting that "apparent" Phocomelia differentiates AARRS from Schinzel Phocomelia syndrome (SPS). ( 23727605 )
2013
5
The WNT7A G204S mutation is associated with both Al-Awadi-Raas Rothschild syndrome and Fuhrmann syndrome phenotypes. ( 23266637 )
2013
6
Al-Awadi/Raas-Rothschild syndrome: two new cases and review. ( 17431918 )
2007

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:

75
# 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
# 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.874C> T (p.Arg292Cys) single nucleotide variant Pathogenic rs104893835 GRCh38 Chromosome 3, 13819120: 13819120
3 WNT7A NM_004625.3(WNT7A): c.610G> A (p.Gly204Ser) single nucleotide variant Pathogenic/Likely pathogenic rs387907231 GRCh37 Chromosome 3, 13860881: 13860881
4 WNT7A NM_004625.3(WNT7A): c.610G> A (p.Gly204Ser) single nucleotide variant Pathogenic/Likely pathogenic rs387907231 GRCh38 Chromosome 3, 13819384: 13819384
5 WNT7A NM_004625.3(WNT7A): c.664C> T (p.Arg222Trp) single nucleotide variant Pathogenic rs397514643 GRCh37 Chromosome 3, 13860827: 13860827
6 WNT7A NM_004625.3(WNT7A): c.664C> T (p.Arg222Trp) single nucleotide variant Pathogenic rs397514643 GRCh38 Chromosome 3, 13819330: 13819330
7 WNT7A NM_004625.3(WNT7A): c.214G> A (p.Glu72Lys) single nucleotide variant Pathogenic rs397514666 GRCh37 Chromosome 3, 13916528: 13916528
8 WNT7A NM_004625.3(WNT7A): c.214G> A (p.Glu72Lys) single nucleotide variant Pathogenic rs397514666 GRCh38 Chromosome 3, 13875031: 13875031
9 WNT7A NM_004625.3(WNT7A): c.304C> T (p.Arg102Trp) single nucleotide variant Pathogenic rs879255548 GRCh37 Chromosome 3, 13896295: 13896295
10 WNT7A NM_004625.3(WNT7A): c.304C> T (p.Arg102Trp) single nucleotide variant Pathogenic rs879255548 GRCh38 Chromosome 3, 13854798: 13854798

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

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74 UMLS via Orphanet
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