LPHAS
MCID: ULN017
MIFTS: 33

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 58 41
Ulna and Fibula Absence of with Severe Limb Deficiency 54 30 6
Al-Awadi/raas-Rothschild Syndrome 58 76 38
Schinzel Phocomelia Syndrome 58 54 76
Aarrs 58 54 76
Absence of Ulna and Fibula with Severe Limb Deficiency 54 76
Limb/pelvis-Hypoplasia/aplasia Syndrome 58 76
Phocomelia, Schinzel Type 54 60
Lphas 58 76
Ulna and Fibula, Absence of, with Sever Limb Deficiency 13
Al-Awadi/raas-Rothschild/schinzel Phocomelia Syndrome 54
Limb/pelvis-Hypoplasia/aplasia Syndrome; Lphas 58
Limb/pelvis/uterus-Hypoplasia/aplasia Syndrome 76
Al-Awadi/raas-Rothschild Syndrome; Aarrs 58
Limb Pelvis Hypoplasia Aplasia Syndrome 76
Aplasia/hypoplasia of Limbs and Pelvis 60
Congenital Absence of Ulna and Fibula 60
Al-Awadi-Raas-Rothschild Syndrome 54
Al Awadi-Raas-Rothschild Syndrome 60
Severe Limb Deficit 60

Characteristics:

Orphanet epidemiological data:

60
phocomelia, schinzel type
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
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 : 54 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 stiff-person syndrome. 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 micromelia and nail dysplasia

OMIM : 58 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 : 76 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 10.8
2 stiff-person syndrome 10.7
3 phocomelia 10.7
4 split-hand/foot malformation 1 10.2
5 isolated split hand-split foot malformation 10.2

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

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

60 33 (show top 50) (show all 74)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 micromelia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002983
2 nail dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002164
3 aplasia/hypoplasia involving the pelvis 60 33 hallmark (90%) Very frequent (99-80%) HP:0009103
4 ectrodactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0100257
5 abnormality of tibia morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0002992
6 disproportionate short stature 60 33 frequent (33%) Very frequent (99-80%) HP:0003498
7 fibular aplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002990
8 aplasia/hypoplasia of the sacrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0008517
9 foot oligodactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001849
10 short foot 33 hallmark (90%) HP:0001773
11 aplasia/hypoplasia of the femur 33 hallmark (90%) HP:0005613
12 hand oligodactyly 33 hallmark (90%) HP:0001180
13 aplasia of the ulna 33 hallmark (90%) HP:0003982
14 short neck 60 33 frequent (33%) Frequent (79-30%) HP:0000470
15 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347
16 intrauterine growth retardation 60 33 frequent (33%) Frequent (79-30%) HP:0001511
17 hypoplasia of the radius 60 33 frequent (33%) Frequent (79-30%) HP:0002984
18 aplasia of the uterus 60 33 occasional (7.5%) Frequent (79-30%) HP:0000151
19 radial bowing 60 33 frequent (33%) Frequent (79-30%) HP:0002986
20 humeroradial synostosis 60 33 frequent (33%) Occasional (29-5%) HP:0003041
21 elbow flexion contracture 33 frequent (33%) HP:0002987
22 split hand 33 frequent (33%) HP:0001171
23 phocomelia 33 frequent (33%) HP:0009829
24 aplasia/hypoplasia involving the metacarpal bones 33 frequent (33%) HP:0005914
25 femoral bowing 33 frequent (33%) HP:0002980
26 aplasia/hypoplasia of the phalanges of the hand 33 frequent (33%) HP:0009767
27 aplasia/hypoplasia of the phalanges of the toes 33 frequent (33%) HP:0010173
28 elbow ankylosis 33 frequent (33%) HP:0003070
29 aplasia/hypoplasia of metatarsal bones 33 frequent (33%) HP:0001964
30 aplasia/hypoplasia of the pubic bone 33 frequent (33%) HP:0009104
31 aplasia/hypoplasia involving the carpal bones 33 frequent (33%) HP:0006502
32 aplasia/hypoplasia of the tarsal bones 33 frequent (33%) HP:0008363
33 short nose 60 33 occasional (7.5%) Occasional (29-5%) HP:0003196
34 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
35 cryptorchidism 60 33 very rare (1%) Occasional (29-5%) HP:0000028
36 hydrops fetalis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001789
37 high, narrow palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0002705
38 protruding ear 60 33 occasional (7.5%) Occasional (29-5%) HP:0000411
39 meningocele 60 33 occasional (7.5%) Occasional (29-5%) HP:0002435
40 anal atresia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002023
41 hypoplasia of penis 60 33 occasional (7.5%) Occasional (29-5%) HP:0008736
42 tracheoesophageal fistula 60 33 occasional (7.5%) Occasional (29-5%) HP:0002575
43 talipes 60 33 occasional (7.5%) Occasional (29-5%) HP:0001883
44 hip dislocation 33 occasional (7.5%) HP:0002827
45 occipital meningocele 33 occasional (7.5%) HP:0002436
46 calvarial skull defect 33 occasional (7.5%) HP:0001362
47 broad ribs 33 very rare (1%) HP:0000885
48 broad neck 33 very rare (1%) HP:0000475
49 long face 33 very rare (1%) HP:0000276
50 scrotal hypoplasia 33 very rare (1%) HP:0000046

Symptoms via clinical synopsis from OMIM:

58
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

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 30 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:

42
Bone, Uterus, Testes

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
The WNT7A G204S mutation is associated with both Al-Awadi-Raas Rothschild syndrome and Fuhrmann syndrome phenotypes. ( 23266637 )
2013
5
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
6
A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families. ( 21344627 )
2011
7
Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogeneity and nosological delineation. ( 21271649 )
2011
8
A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. ( 20949531 )
2010
9
Al-Awadi/Raas-Rothschild syndrome: two new cases and review. ( 17431918 )
2007
10
Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. ( 16826533 )
2006

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:

76
# 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.610G> A (p.Gly204Ser) single nucleotide variant Pathogenic/Likely pathogenic rs387907231 GRCh38 Chromosome 3, 13819384: 13819384
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.874C> T (p.Arg292Cys) single nucleotide variant Pathogenic rs104893835 GRCh38 Chromosome 3, 13819120: 13819120
4 WNT7A NM_004625.3(WNT7A): c.874C> T (p.Arg292Cys) single nucleotide variant Pathogenic rs104893835 GRCh37 Chromosome 3, 13860617: 13860617
5 WNT7A NM_004625.3(WNT7A): c.664C> T (p.Arg222Trp) single nucleotide variant Pathogenic rs397514643 GRCh38 Chromosome 3, 13819330: 13819330
6 WNT7A NM_004625.3(WNT7A): c.664C> T (p.Arg222Trp) single nucleotide variant Pathogenic rs397514643 GRCh37 Chromosome 3, 13860827: 13860827
7 WNT7A NM_004625.3(WNT7A): c.214G> A (p.Glu72Lys) single nucleotide variant Pathogenic rs397514666 GRCh38 Chromosome 3, 13875031: 13875031
8 WNT7A NM_004625.3(WNT7A): c.214G> A (p.Glu72Lys) single nucleotide variant Pathogenic rs397514666 GRCh37 Chromosome 3, 13916528: 13916528
9 WNT7A NM_004625.3(WNT7A): c.304C> T (p.Arg102Trp) single nucleotide variant Pathogenic rs879255548 GRCh38 Chromosome 3, 13854798: 13854798
10 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

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